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GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 19, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000134174.4

Allele description

GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3

Genes:
  • A1BG-AS1:A1BG antisense RNA 1 [Gene - HGNC]
  • LOC130065066:ATAC-STARR-seq lymphoblastoid active region 15057 [Gene]
  • LOC130065067:ATAC-STARR-seq lymphoblastoid active region 15058 [Gene]
  • LOC130065068:ATAC-STARR-seq lymphoblastoid active region 15059 [Gene]
  • LOC130065069:ATAC-STARR-seq lymphoblastoid active region 15062 [Gene]
  • LOC130065072:ATAC-STARR-seq lymphoblastoid active region 15063 [Gene]
  • LOC130065074:ATAC-STARR-seq lymphoblastoid active region 15064 [Gene]
  • LOC130065075:ATAC-STARR-seq lymphoblastoid active region 15065 [Gene]
  • LOC130065077:ATAC-STARR-seq lymphoblastoid active region 15066 [Gene]
  • LOC130065082:ATAC-STARR-seq lymphoblastoid active region 15070 [Gene]
  • LOC130065083:ATAC-STARR-seq lymphoblastoid active region 15071 [Gene]
  • LOC130065087:ATAC-STARR-seq lymphoblastoid active region 15075 [Gene]
  • LOC130065088:ATAC-STARR-seq lymphoblastoid active region 15076 [Gene]
  • LOC130065089:ATAC-STARR-seq lymphoblastoid active region 15077 [Gene]
  • LOC130065091:ATAC-STARR-seq lymphoblastoid active region 15078 [Gene]
  • LOC130065092:ATAC-STARR-seq lymphoblastoid active region 15079 [Gene]
  • LOC130065093:ATAC-STARR-seq lymphoblastoid active region 15080 [Gene]
  • LOC130065094:ATAC-STARR-seq lymphoblastoid active region 15081 [Gene]
  • LOC130065095:ATAC-STARR-seq lymphoblastoid active region 15082 [Gene]
  • LOC130065096:ATAC-STARR-seq lymphoblastoid active region 15083 [Gene]
  • LOC130065097:ATAC-STARR-seq lymphoblastoid active region 15084 [Gene]
  • LOC130065098:ATAC-STARR-seq lymphoblastoid active region 15086 [Gene]
  • LOC130065099:ATAC-STARR-seq lymphoblastoid active region 15087 [Gene]
  • LOC130065100:ATAC-STARR-seq lymphoblastoid active region 15088 [Gene]
  • LOC130065101:ATAC-STARR-seq lymphoblastoid active region 15089 [Gene]
  • LOC130065103:ATAC-STARR-seq lymphoblastoid active region 15090 [Gene]
  • LOC130065108:ATAC-STARR-seq lymphoblastoid active region 15091 [Gene]
  • LOC130065110:ATAC-STARR-seq lymphoblastoid active region 15093 [Gene]
  • LOC130065111:ATAC-STARR-seq lymphoblastoid active region 15094 [Gene]
  • LOC130065114:ATAC-STARR-seq lymphoblastoid active region 15095 [Gene]
  • LOC130065115:ATAC-STARR-seq lymphoblastoid active region 15096 [Gene]
  • LOC130065122:ATAC-STARR-seq lymphoblastoid active region 15097 [Gene]
  • LOC130065129:ATAC-STARR-seq lymphoblastoid active region 15098 [Gene]
  • LOC130065130:ATAC-STARR-seq lymphoblastoid active region 15100 [Gene]
  • LOC130065131:ATAC-STARR-seq lymphoblastoid active region 15101 [Gene]
  • LOC130065133:ATAC-STARR-seq lymphoblastoid active region 15102 [Gene]
  • LOC130065137:ATAC-STARR-seq lymphoblastoid active region 15105 [Gene]
  • LOC130065138:ATAC-STARR-seq lymphoblastoid active region 15106 [Gene]
  • LOC130065142:ATAC-STARR-seq lymphoblastoid active region 15107 [Gene]
  • LOC130065145:ATAC-STARR-seq lymphoblastoid active region 15110 [Gene]
  • LOC130065147:ATAC-STARR-seq lymphoblastoid active region 15111 [Gene]
  • LOC130065149:ATAC-STARR-seq lymphoblastoid active region 15112 [Gene]
  • LOC130065150:ATAC-STARR-seq lymphoblastoid active region 15113 [Gene]
  • LOC130065151:ATAC-STARR-seq lymphoblastoid active region 15114 [Gene]
  • LOC130065152:ATAC-STARR-seq lymphoblastoid active region 15115 [Gene]
  • LOC130065153:ATAC-STARR-seq lymphoblastoid active region 15116 [Gene]
  • LOC130065154:ATAC-STARR-seq lymphoblastoid active region 15117 [Gene]
  • LOC130065155:ATAC-STARR-seq lymphoblastoid active region 15118 [Gene]
  • LOC130065156:ATAC-STARR-seq lymphoblastoid active region 15119 [Gene]
  • LOC130065158:ATAC-STARR-seq lymphoblastoid active region 15120 [Gene]
  • LOC130065159:ATAC-STARR-seq lymphoblastoid active region 15121 [Gene]
  • LOC130065160:ATAC-STARR-seq lymphoblastoid active region 15122 [Gene]
  • LOC130065163:ATAC-STARR-seq lymphoblastoid active region 15123 [Gene]
  • LOC130065164:ATAC-STARR-seq lymphoblastoid active region 15124 [Gene]
  • LOC130065165:ATAC-STARR-seq lymphoblastoid active region 15125 [Gene]
  • LOC130065166:ATAC-STARR-seq lymphoblastoid active region 15126 [Gene]
  • LOC130065168:ATAC-STARR-seq lymphoblastoid active region 15127 [Gene]
  • LOC130065169:ATAC-STARR-seq lymphoblastoid active region 15128 [Gene]
  • LOC130065173:ATAC-STARR-seq lymphoblastoid active region 15130 [Gene]
  • LOC130065174:ATAC-STARR-seq lymphoblastoid active region 15131 [Gene]
  • LOC130065175:ATAC-STARR-seq lymphoblastoid active region 15132 [Gene]
  • LOC130065176:ATAC-STARR-seq lymphoblastoid active region 15135 [Gene]
  • LOC130065177:ATAC-STARR-seq lymphoblastoid active region 15136 [Gene]
  • LOC130065178:ATAC-STARR-seq lymphoblastoid active region 15137 [Gene]
  • LOC130065179:ATAC-STARR-seq lymphoblastoid active region 15138 [Gene]
  • LOC130065180:ATAC-STARR-seq lymphoblastoid active region 15139 [Gene]
  • LOC130065181:ATAC-STARR-seq lymphoblastoid active region 15140 [Gene]
  • LOC130065182:ATAC-STARR-seq lymphoblastoid active region 15141 [Gene]
  • LOC130065183:ATAC-STARR-seq lymphoblastoid active region 15142 [Gene]
  • LOC130065184:ATAC-STARR-seq lymphoblastoid active region 15143 [Gene]
  • LOC130065185:ATAC-STARR-seq lymphoblastoid active region 15144 [Gene]
  • LOC130065187:ATAC-STARR-seq lymphoblastoid active region 15148 [Gene]
  • LOC130065188:ATAC-STARR-seq lymphoblastoid active region 15149 [Gene]
  • LOC130065189:ATAC-STARR-seq lymphoblastoid active region 15150 [Gene]
  • LOC130065191:ATAC-STARR-seq lymphoblastoid active region 15151 [Gene]
  • LOC130065192:ATAC-STARR-seq lymphoblastoid active region 15152 [Gene]
  • LOC130065195:ATAC-STARR-seq lymphoblastoid active region 15157 [Gene]
  • LOC130065196:ATAC-STARR-seq lymphoblastoid active region 15159 [Gene]
  • LOC130065197:ATAC-STARR-seq lymphoblastoid active region 15160 [Gene]
  • LOC130065198:ATAC-STARR-seq lymphoblastoid active region 15162 [Gene]
  • LOC130065199:ATAC-STARR-seq lymphoblastoid active region 15163 [Gene]
  • LOC130065200:ATAC-STARR-seq lymphoblastoid active region 15164 [Gene]
  • LOC130065201:ATAC-STARR-seq lymphoblastoid active region 15165 [Gene]
  • LOC130065202:ATAC-STARR-seq lymphoblastoid active region 15166 [Gene]
  • LOC130065203:ATAC-STARR-seq lymphoblastoid active region 15167 [Gene]
  • LOC130065204:ATAC-STARR-seq lymphoblastoid active region 15169 [Gene]
  • LOC130065205:ATAC-STARR-seq lymphoblastoid active region 15172 [Gene]
  • LOC130065206:ATAC-STARR-seq lymphoblastoid active region 15173 [Gene]
  • LOC130065207:ATAC-STARR-seq lymphoblastoid active region 15174 [Gene]
  • LOC130065208:ATAC-STARR-seq lymphoblastoid active region 15175 [Gene]
  • LOC130065209:ATAC-STARR-seq lymphoblastoid active region 15176 [Gene]
  • LOC130065210:ATAC-STARR-seq lymphoblastoid active region 15177 [Gene]
  • LOC130065211:ATAC-STARR-seq lymphoblastoid active region 15178 [Gene]
  • LOC130065212:ATAC-STARR-seq lymphoblastoid active region 15181 [Gene]
  • LOC130065213:ATAC-STARR-seq lymphoblastoid active region 15182 [Gene]
  • LOC130065214:ATAC-STARR-seq lymphoblastoid active region 15183 [Gene]
  • LOC130065215:ATAC-STARR-seq lymphoblastoid active region 15186 [Gene]
  • LOC130065216:ATAC-STARR-seq lymphoblastoid active region 15190 [Gene]
  • LOC130065217:ATAC-STARR-seq lymphoblastoid active region 15191 [Gene]
  • LOC130065218:ATAC-STARR-seq lymphoblastoid active region 15192 [Gene]
  • LOC130065219:ATAC-STARR-seq lymphoblastoid active region 15193 [Gene]
  • LOC130065220:ATAC-STARR-seq lymphoblastoid active region 15194 [Gene]
  • LOC130065221:ATAC-STARR-seq lymphoblastoid active region 15195 [Gene]
  • LOC130065223:ATAC-STARR-seq lymphoblastoid active region 15198 [Gene]
  • LOC130065225:ATAC-STARR-seq lymphoblastoid active region 15199 [Gene]
  • LOC130065226:ATAC-STARR-seq lymphoblastoid active region 15200 [Gene]
  • LOC130065227:ATAC-STARR-seq lymphoblastoid active region 15201 [Gene]
  • LOC130065228:ATAC-STARR-seq lymphoblastoid active region 15203 [Gene]
  • LOC130065229:ATAC-STARR-seq lymphoblastoid active region 15205 [Gene]
  • LOC130065230:ATAC-STARR-seq lymphoblastoid active region 15206 [Gene]
  • LOC130065235:ATAC-STARR-seq lymphoblastoid active region 15207 [Gene]
  • LOC130065236:ATAC-STARR-seq lymphoblastoid active region 15208 [Gene]
  • LOC130065240:ATAC-STARR-seq lymphoblastoid active region 15209 [Gene]
  • LOC130065241:ATAC-STARR-seq lymphoblastoid active region 15210 [Gene]
  • LOC130065243:ATAC-STARR-seq lymphoblastoid active region 15211 [Gene]
  • LOC130065247:ATAC-STARR-seq lymphoblastoid active region 15214 [Gene]
  • LOC130065064:ATAC-STARR-seq lymphoblastoid silent region 10996 [Gene]
  • LOC130065065:ATAC-STARR-seq lymphoblastoid silent region 10997 [Gene]
  • LOC130065070:ATAC-STARR-seq lymphoblastoid silent region 11002 [Gene]
  • LOC130065071:ATAC-STARR-seq lymphoblastoid silent region 11003 [Gene]
  • LOC130065073:ATAC-STARR-seq lymphoblastoid silent region 11005 [Gene]
  • LOC130065076:ATAC-STARR-seq lymphoblastoid silent region 11007 [Gene]
  • LOC130065078:ATAC-STARR-seq lymphoblastoid silent region 11008 [Gene]
  • LOC130065079:ATAC-STARR-seq lymphoblastoid silent region 11009 [Gene]
  • LOC130065080:ATAC-STARR-seq lymphoblastoid silent region 11010 [Gene]
  • LOC130065081:ATAC-STARR-seq lymphoblastoid silent region 11011 [Gene]
  • LOC130065084:ATAC-STARR-seq lymphoblastoid silent region 11013 [Gene]
  • LOC130065085:ATAC-STARR-seq lymphoblastoid silent region 11014 [Gene]
  • LOC130065086:ATAC-STARR-seq lymphoblastoid silent region 11015 [Gene]
  • LOC130065090:ATAC-STARR-seq lymphoblastoid silent region 11016 [Gene]
  • LOC130065102:ATAC-STARR-seq lymphoblastoid silent region 11021 [Gene]
  • LOC130065104:ATAC-STARR-seq lymphoblastoid silent region 11022 [Gene]
  • LOC130065105:ATAC-STARR-seq lymphoblastoid silent region 11023 [Gene]
  • LOC130065106:ATAC-STARR-seq lymphoblastoid silent region 11024 [Gene]
  • LOC130065107:ATAC-STARR-seq lymphoblastoid silent region 11025 [Gene]
  • LOC130065109:ATAC-STARR-seq lymphoblastoid silent region 11027 [Gene]
  • LOC130065112:ATAC-STARR-seq lymphoblastoid silent region 11030 [Gene]
  • LOC130065113:ATAC-STARR-seq lymphoblastoid silent region 11031 [Gene]
  • LOC130065116:ATAC-STARR-seq lymphoblastoid silent region 11032 [Gene]
  • LOC130065117:ATAC-STARR-seq lymphoblastoid silent region 11034 [Gene]
  • LOC130065118:ATAC-STARR-seq lymphoblastoid silent region 11035 [Gene]
  • LOC130065119:ATAC-STARR-seq lymphoblastoid silent region 11036 [Gene]
  • LOC130065120:ATAC-STARR-seq lymphoblastoid silent region 11037 [Gene]
  • LOC130065121:ATAC-STARR-seq lymphoblastoid silent region 11038 [Gene]
  • LOC130065123:ATAC-STARR-seq lymphoblastoid silent region 11039 [Gene]
  • LOC130065124:ATAC-STARR-seq lymphoblastoid silent region 11040 [Gene]
  • LOC130065125:ATAC-STARR-seq lymphoblastoid silent region 11043 [Gene]
  • LOC130065126:ATAC-STARR-seq lymphoblastoid silent region 11044 [Gene]
  • LOC130065127:ATAC-STARR-seq lymphoblastoid silent region 11045 [Gene]
  • LOC130065128:ATAC-STARR-seq lymphoblastoid silent region 11048 [Gene]
  • LOC130065132:ATAC-STARR-seq lymphoblastoid silent region 11051 [Gene]
  • LOC130065134:ATAC-STARR-seq lymphoblastoid silent region 11053 [Gene]
  • LOC130065135:ATAC-STARR-seq lymphoblastoid silent region 11055 [Gene]
  • LOC130065136:ATAC-STARR-seq lymphoblastoid silent region 11056 [Gene]
  • LOC130065139:ATAC-STARR-seq lymphoblastoid silent region 11057 [Gene]
  • LOC130065140:ATAC-STARR-seq lymphoblastoid silent region 11058 [Gene]
  • LOC130065141:ATAC-STARR-seq lymphoblastoid silent region 11059 [Gene]
  • LOC130065143:ATAC-STARR-seq lymphoblastoid silent region 11060 [Gene]
  • LOC130065144:ATAC-STARR-seq lymphoblastoid silent region 11061 [Gene]
  • LOC130065146:ATAC-STARR-seq lymphoblastoid silent region 11062 [Gene]
  • LOC130065148:ATAC-STARR-seq lymphoblastoid silent region 11063 [Gene]
  • LOC130065157:ATAC-STARR-seq lymphoblastoid silent region 11069 [Gene]
  • LOC130065161:ATAC-STARR-seq lymphoblastoid silent region 11070 [Gene]
  • LOC130065162:ATAC-STARR-seq lymphoblastoid silent region 11071 [Gene]
  • LOC130065167:ATAC-STARR-seq lymphoblastoid silent region 11072 [Gene]
  • LOC130065170:ATAC-STARR-seq lymphoblastoid silent region 11073 [Gene]
  • LOC130065171:ATAC-STARR-seq lymphoblastoid silent region 11074 [Gene]
  • LOC130065172:ATAC-STARR-seq lymphoblastoid silent region 11075 [Gene]
  • LOC130065186:ATAC-STARR-seq lymphoblastoid silent region 11076 [Gene]
  • LOC130065190:ATAC-STARR-seq lymphoblastoid silent region 11077 [Gene]
  • LOC130065193:ATAC-STARR-seq lymphoblastoid silent region 11078 [Gene]
  • LOC130065194:ATAC-STARR-seq lymphoblastoid silent region 11079 [Gene]
  • LOC130065222:ATAC-STARR-seq lymphoblastoid silent region 11082 [Gene]
  • LOC130065224:ATAC-STARR-seq lymphoblastoid silent region 11083 [Gene]
  • LOC130065231:ATAC-STARR-seq lymphoblastoid silent region 11086 [Gene]
  • LOC130065232:ATAC-STARR-seq lymphoblastoid silent region 11087 [Gene]
  • LOC130065233:ATAC-STARR-seq lymphoblastoid silent region 11088 [Gene]
  • LOC130065234:ATAC-STARR-seq lymphoblastoid silent region 11089 [Gene]
  • LOC130065237:ATAC-STARR-seq lymphoblastoid silent region 11091 [Gene]
  • LOC130065238:ATAC-STARR-seq lymphoblastoid silent region 11092 [Gene]
  • LOC130065239:ATAC-STARR-seq lymphoblastoid silent region 11093 [Gene]
  • LOC130065242:ATAC-STARR-seq lymphoblastoid silent region 11094 [Gene]
  • LOC130065244:ATAC-STARR-seq lymphoblastoid silent region 11095 [Gene]
  • LOC130065245:ATAC-STARR-seq lymphoblastoid silent region 11096 [Gene]
  • LOC130065246:ATAC-STARR-seq lymphoblastoid silent region 11097 [Gene]
  • BRSK1:BR serine/threonine kinase 1 [Gene - OMIM - HGNC]
  • LOC126862932:BRD4-independent group 4 enhancer GRCh37_chr19:55246834-55248033 [Gene]
  • LOC126862933:BRD4-independent group 4 enhancer GRCh37_chr19:55275257-55276456 [Gene]
  • LOC126862934:BRD4-independent group 4 enhancer GRCh37_chr19:56480507-56481706 [Gene]
  • LOC126862935:BRD4-independent group 4 enhancer GRCh37_chr19:56537936-56539135 [Gene]
  • LOC126862938:BRD4-independent group 4 enhancer GRCh37_chr19:56888366-56889565 [Gene]
  • LOC126862939:BRD4-independent group 4 enhancer GRCh37_chr19:56895030-56896229 [Gene]
  • LOC126862942:BRD4-independent group 4 enhancer GRCh37_chr19:57058653-57059852 [Gene]
  • LOC126862944:BRD4-independent group 4 enhancer GRCh37_chr19:57791112-57792311 [Gene]
  • LOC126862946:BRD4-independent group 4 enhancer GRCh37_chr19:58071339-58072538 [Gene]
  • CNOT3:CCR4-NOT transcription complex subunit 3 [Gene - OMIM - HGNC]
  • CDC42EP5:CDC42 effector protein 5 [Gene - OMIM - HGNC]
  • LOC126862931:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:54782879-54784078 [Gene]
  • LOC126862937:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:56747404-56748603 [Gene]
  • LOC126862947:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:58361669-58362868 [Gene]
  • LOC116286196:CRISPRi-validated cis-regulatory element chr19.6204 [Gene]
  • LOC116286197:CRISPRi-validated cis-regulatory element chr19.6329 [Gene]
  • DNAAF3-AS1:DNAAF3 antisense RNA 1 [Gene - HGNC]
  • EPS8L1:EPS8 like 1 [Gene - OMIM - HGNC]
  • FIZ1:FLT3 interacting zinc finger 1 [Gene - OMIM - HGNC]
  • FCAR:Fc alpha receptor [Gene - OMIM - HGNC]
  • HSPBP1:HSPA (Hsp70) binding protein 1 [Gene - OMIM - HGNC]
  • LENG8-AS1:LENG8 antisense RNA 1 [Gene - HGNC]
  • LOC126862928:MED14-independent group 3 enhancer GRCh37_chr19:53797962-53799161 [Gene]
  • LOC126862929:MED14-independent group 3 enhancer GRCh37_chr19:53995337-53996536 [Gene]
  • LOC126862936:MED14-independent group 3 enhancer GRCh37_chr19:56602588-56603787 [Gene]
  • LOC126862940:MED14-independent group 3 enhancer GRCh37_chr19:56968363-56969562 [Gene]
  • LOC126862945:MED14-independent group 3 enhancer GRCh37_chr19:57988249-57989448 [Gene]
  • MIMT1:MER1 repeat containing imprinted transcript 1 [Gene - OMIM - HGNC]
  • LOC129391135:MPRA-validated peak3548 silencer [Gene]
  • LOC129391136:MPRA-validated peak3549 silencer [Gene]
  • LOC129391137:MPRA-validated peak3551 silencer [Gene]
  • LOC129391138:MPRA-validated peak3552 silencer [Gene]
  • LOC129391139:MPRA-validated peak3554 silencer [Gene]
  • LOC129391140:MPRA-validated peak3555 silencer [Gene]
  • LOC129391141:MPRA-validated peak3558 silencer [Gene]
  • LOC129391142:MPRA-validated peak3560 silencer [Gene]
  • LOC129391143:MPRA-validated peak3563 silencer [Gene]
  • LOC129391144:MPRA-validated peak3567 silencer [Gene]
  • LOC129391145:MPRA-validated peak3570 silencer [Gene]
  • LOC129391146:MPRA-validated peak3574 silencer [Gene]
  • MYADM-AS1:MYADM antisense RNA 1 [Gene - HGNC]
  • MZF1-AS1:MZF1 antisense RNA 1 [Gene - HGNC]
  • NAT14:N-acetyltransferase 14 (putative) [Gene - HGNC]
  • NDUFA3:NADH:ubiquinone oxidoreductase subunit A3 [Gene - OMIM - HGNC]
  • NLRP11:NLR family pyrin domain containing 11 [Gene - OMIM - HGNC]
  • NLRP12:NLR family pyrin domain containing 12 [Gene - OMIM - HGNC]
  • NLRP13:NLR family pyrin domain containing 13 [Gene - OMIM - HGNC]
  • NLRP2:NLR family pyrin domain containing 2 [Gene - OMIM - HGNC]
  • NLRP4:NLR family pyrin domain containing 4 [Gene - OMIM - HGNC]
  • NLRP5:NLR family pyrin domain containing 5 [Gene - OMIM - HGNC]
  • NLRP7:NLR family pyrin domain containing 7 [Gene - OMIM - HGNC]
  • NLRP8:NLR family pyrin domain containing 8 [Gene - OMIM - HGNC]
  • NLRP9:NLR family pyrin domain containing 9 [Gene - OMIM - HGNC]
  • LOC132090554:Neanderthal introgressed variant-containing enhancer experimental_51709 [Gene]
  • LOC132090557:Neanderthal introgressed variant-containing enhancer experimental_51805 [Gene]
  • LOC132090558:Neanderthal introgressed variant-containing enhancer experimental_51865 [Gene]
  • LOC132090559:Neanderthal introgressed variant-containing enhancer experimental_51899 [Gene]
  • LOC132090560:Neanderthal introgressed variant-containing enhancer experimental_51953 [Gene]
  • LOC126862927:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:53172853-53174052 [Gene]
  • LOC126862930:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:54080110-54081309 [Gene]
  • LOC126862941:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:57037017-57038216 [Gene]
  • LOC126862943:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:57065620-57066819 [Gene]
  • PEG3-AS1:PEG3 antisense RNA 1 [Gene - HGNC]
  • PRPF31-AS1:PRPF31 antisense RNA 1 [Gene - HGNC]
  • SBK2:SH3 domain binding kinase family member 2 [Gene - OMIM - HGNC]
  • SBK3:SH3 domain binding kinase family member 3 [Gene - HGNC]
  • LOC125384549:Sharpr-MPRA regulatory region 10022 [Gene]
  • LOC125384533:Sharpr-MPRA regulatory region 10215 [Gene]
  • LOC112553119:Sharpr-MPRA regulatory region 10473 [Gene]
  • LOC125384538:Sharpr-MPRA regulatory region 11129 [Gene]
  • LOC121852994:Sharpr-MPRA regulatory region 11471 [Gene]
  • LOC121852993:Sharpr-MPRA regulatory region 12456 [Gene]
  • LOC125384544:Sharpr-MPRA regulatory region 13032 [Gene]
  • LOC125384537:Sharpr-MPRA regulatory region 13763 [Gene]
  • LOC112553118:Sharpr-MPRA regulatory region 13801 [Gene]
  • LOC125384543:Sharpr-MPRA regulatory region 14522 [Gene]
  • LOC125384546:Sharpr-MPRA regulatory region 14549 [Gene]
  • LOC113939975:Sharpr-MPRA regulatory region 15209 [Gene]
  • LOC125384534:Sharpr-MPRA regulatory region 15373 [Gene]
  • LOC112553116:Sharpr-MPRA regulatory region 15410 [Gene]
  • LOC125384536:Sharpr-MPRA regulatory region 15416 [Gene]
  • LOC112553113:Sharpr-MPRA regulatory region 171 [Gene]
  • LOC125384532:Sharpr-MPRA regulatory region 1800 [Gene]
  • LOC125384545:Sharpr-MPRA regulatory region 1979 [Gene]
  • LOC112553117:Sharpr-MPRA regulatory region 1998 [Gene]
  • LOC112577452:Sharpr-MPRA regulatory region 2652 [Gene]
  • LOC121627889:Sharpr-MPRA regulatory region 3098 [Gene]
  • LOC125384542:Sharpr-MPRA regulatory region 3421 [Gene]
  • LOC125384540:Sharpr-MPRA regulatory region 3758 [Gene]
  • LOC112553114:Sharpr-MPRA regulatory region 3780 [Gene]
  • LOC121627888:Sharpr-MPRA regulatory region 4174 [Gene]
  • LOC125384553:Sharpr-MPRA regulatory region 4347 [Gene]
  • LOC125384539:Sharpr-MPRA regulatory region 4976 [Gene]
  • LOC125384541:Sharpr-MPRA regulatory region 5021 [Gene]
  • LOC125384548:Sharpr-MPRA regulatory region 5355 [Gene]
  • LOC125384550:Sharpr-MPRA regulatory region 649 [Gene]
  • LOC125384535:Sharpr-MPRA regulatory region 7396 [Gene]
  • LOC125384552:Sharpr-MPRA regulatory region 7439 [Gene]
  • LOC125384551:Sharpr-MPRA regulatory region 748 [Gene]
  • LOC112577453:Sharpr-MPRA regulatory region 7872 [Gene]
  • LOC112553115:Sharpr-MPRA regulatory region 8373 [Gene]
  • LOC112577454:Sharpr-MPRA regulatory region 9894 [Gene]
  • TARM1:T cell-interacting, activating receptor on myeloid cells 1 [Gene - OMIM - HGNC]
  • TFPT:TCF3 fusion partner [Gene - OMIM - HGNC]
  • U2AF2:U2 small nuclear RNA auxiliary factor 2 [Gene - OMIM - HGNC]
  • VSTM1:V-set and transmembrane domain containing 1 [Gene - OMIM - HGNC]
  • ZFP28-DT:ZFP28 divergent transcript [Gene - HGNC]
  • ZFP28:ZFP28 zinc finger protein [Gene - OMIM - HGNC]
  • ZIM2-AS1:ZIM2 antisense RNA 1 [Gene - HGNC]
  • ZNF132-DT:ZNF132 divergent transcript [Gene - HGNC]
  • ZNF460-AS1:ZNF460 antisense RNA 1 [Gene - HGNC]
  • ZNF470-DT:ZNF470 divergent transcript [Gene - HGNC]
  • ZNF497-AS1:ZNF497 antisense RNA 1 [Gene - HGNC]
  • ZNF582-DT:ZNF582 divergent transcript [Gene - HGNC]
  • ZNF584-DT:ZNF584 divergent transcript [Gene - HGNC]
  • ZNF606-AS1:ZNF606 antisense RNA 1 [Gene - HGNC]
  • ZNF667-AS1:ZNF667 antisense RNA 1 (head to head) [Gene - HGNC]
  • ZNF71-SMIM17:ZNF71-SMIM17 readthrough (NMD candidate) [Gene]
  • ZNF765-ZNF761:ZNF765-ZNF761 readthrough [Gene]
  • ZNF8-DT:ZNF8 divergent transcript [Gene - HGNC]
  • ZNF8-ERVK3-1:ZNF8-ERVK3-1 readthrough (NMD candidate) [Gene - HGNC]
  • ZNF816-ZNF321P:ZNF816-ZNF321P readthrough [Gene - HGNC]
  • ZNF888-AS1:ZNF888 antisense RNA 1 [Gene - HGNC]
  • ZSCAN5A-AS1:ZSCAN5A antisense RNA 1 [Gene - HGNC]
  • LOC122539214:Zinc finger protein LOC122539214 [Gene]
  • A1BG:alpha-1-B glycoprotein [Gene - OMIM - HGNC]
  • AURKC:aurora kinase C [Gene - OMIM - HGNC]
  • CACNG6:calcium voltage-gated channel auxiliary subunit gamma 6 [Gene - OMIM - HGNC]
  • CACNG7:calcium voltage-gated channel auxiliary subunit gamma 7 [Gene - OMIM - HGNC]
  • CACNG8:calcium voltage-gated channel auxiliary subunit gamma 8 [Gene - OMIM - HGNC]
  • CHMP2A:charged multivesicular body protein 2A [Gene - OMIM - HGNC]
  • C19orf18:chromosome 19 open reading frame 18 [Gene - HGNC]
  • C19orf85:chromosome 19 open reading frame 85 [Gene - HGNC]
  • CCDC106:coiled-coil domain containing 106 [Gene - OMIM - HGNC]
  • COX6B2:cytochrome c oxidase subunit 6B2 [Gene - OMIM - HGNC]
  • DPRX:divergent-paired related homeobox [Gene - OMIM - HGNC]
  • DUXA:double homeobox A [Gene - OMIM - HGNC]
  • DNAAF3:dynein axonemal assembly factor 3 [Gene - OMIM - HGNC]
  • ERVFRD-2:endogenous retrovirus group FRD member 2 [Gene - HGNC]
  • ERVK3-1:endogenous retrovirus group K3 member 1 [Gene - HGNC]
  • ERVV-1:endogenous retrovirus group V member 1, envelope [Gene - HGNC]
  • ERVV-2:endogenous retrovirus group V member 2, envelope [Gene - HGNC]
  • EDDM13:epididymal protein 13 [Gene - HGNC]
  • EPN1:epsin 1 [Gene - OMIM - HGNC]
  • GALP:galanin like peptide [Gene - OMIM - HGNC]
  • GP6:glycoprotein VI platelet [Gene - OMIM - HGNC]
  • GARIN5B:golgi associated RAB2 interactor family member 5B [Gene - HGNC]
  • IL11:interleukin 11 [Gene - OMIM - HGNC]
  • ISOC2:isochorismatase domain containing 2 [Gene - OMIM - HGNC]
  • KIR3DL1:killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 [Gene - OMIM - HGNC]
  • KIR3DL2:killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 [Gene - OMIM - HGNC]
  • KIR3DL3:killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 [Gene - OMIM - HGNC]
  • KIR2DL1:killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 [Gene - OMIM - HGNC]
  • KIR2DL3:killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3 [Gene - OMIM - HGNC]
  • KIR2DL4:killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 [Gene - OMIM - HGNC]
  • KIR2DS4:killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4 [Gene - OMIM - HGNC]
  • LAIR1:leukocyte associated immunoglobulin like receptor 1 [Gene - OMIM - HGNC]
  • LAIR2:leukocyte associated immunoglobulin like receptor 2 [Gene - OMIM - HGNC]
  • LILRA1:leukocyte immunoglobulin like receptor A1 [Gene - OMIM - HGNC]
  • LILRA2:leukocyte immunoglobulin like receptor A2 [Gene - OMIM - HGNC]
  • LILRA4:leukocyte immunoglobulin like receptor A4 [Gene - OMIM - HGNC]
  • LILRA5:leukocyte immunoglobulin like receptor A5 [Gene - OMIM - HGNC]
  • LILRA6:leukocyte immunoglobulin like receptor A6 [Gene - HGNC]
  • LILRB1:leukocyte immunoglobulin like receptor B1 [Gene - OMIM - HGNC]
  • LILRB2:leukocyte immunoglobulin like receptor B2 [Gene - OMIM - HGNC]
  • LILRB3:leukocyte immunoglobulin like receptor B3 [Gene - OMIM - HGNC]
  • LILRB4:leukocyte immunoglobulin like receptor B4 [Gene - OMIM - HGNC]
  • LILRB5:leukocyte immunoglobulin like receptor B5 [Gene - OMIM - HGNC]
  • LENG1:leukocyte receptor cluster member 1 [Gene - HGNC]
  • LENG8:leukocyte receptor cluster member 8 [Gene - OMIM - HGNC]
  • LENG9:leukocyte receptor cluster member 9 [Gene - HGNC]
  • LINC01864:long intergenic non-protein coding RNA 1864 [Gene - HGNC]
  • LINC02560:long intergenic non-protein coding RNA 2560 [Gene - HGNC]
  • KMT5C:lysine methyltransferase 5C [Gene - OMIM - HGNC]
  • MBOAT7:membrane bound O-acyltransferase domain containing 7 [Gene - OMIM - HGNC]
  • MIR10394:microRNA 10394 [Gene - HGNC]
  • MIR1283-1:microRNA 1283-1 [Gene - HGNC]
  • MIR1283-2:microRNA 1283-2 [Gene - HGNC]
  • MIR1323:microRNA 1323 [Gene - HGNC]
  • MIR371A:microRNA 371a [Gene - OMIM - HGNC]
  • MIR371B:microRNA 371b [Gene - HGNC]
  • MIR372:microRNA 372 [Gene - OMIM - HGNC]
  • MIR373:microRNA 373 [Gene - OMIM - HGNC]
  • MIR4752:microRNA 4752 [Gene - HGNC]
  • MIR4754:microRNA 4754 [Gene - HGNC]
  • MIR498:microRNA 498 [Gene - HGNC]
  • MIR512-1:microRNA 512-1 [Gene - HGNC]
  • MIR512-2:microRNA 512-2 [Gene - HGNC]
  • MIR515-1:microRNA 515-1 [Gene - HGNC]
  • MIR515-2:microRNA 515-2 [Gene - HGNC]
  • MIR516A1:microRNA 516a-1 [Gene - HGNC]
  • MIR516A2:microRNA 516a-2 [Gene - HGNC]
  • MIR516B1:microRNA 516b-1 [Gene - HGNC]
  • MIR516B2:microRNA 516b-2 [Gene - HGNC]
  • MIR517A:microRNA 517a [Gene - HGNC]
  • MIR517B:microRNA 517b [Gene - HGNC]
  • MIR517C:microRNA 517c [Gene - HGNC]
  • MIR518A1:microRNA 518a-1 [Gene - HGNC]
  • MIR518A2:microRNA 518a-2 [Gene - HGNC]
  • MIR518B:microRNA 518b [Gene - HGNC]
  • MIR518C:microRNA 518c [Gene - HGNC]
  • MIR518D:microRNA 518d [Gene - HGNC]
  • MIR518E:microRNA 518e [Gene - HGNC]
  • MIR518F:microRNA 518f [Gene - HGNC]
  • MIR519A1:microRNA 519a-1 [Gene - HGNC]
  • MIR519A2:microRNA 519a-2 [Gene - HGNC]
  • MIR519B:microRNA 519b [Gene - HGNC]
  • MIR519C:microRNA 519c [Gene - HGNC]
  • MIR519D:microRNA 519d [Gene - OMIM - HGNC]
  • MIR519E:microRNA 519e [Gene - HGNC]
  • MIR520A:microRNA 520a [Gene - HGNC]
  • MIR520B:microRNA 520b [Gene - HGNC]
  • MIR520C:microRNA 520c [Gene - OMIM - HGNC]
  • MIR520D:microRNA 520d [Gene - HGNC]
  • MIR520E:microRNA 520e [Gene - HGNC]
  • MIR520F:microRNA 520f [Gene - HGNC]
  • MIR520G:microRNA 520g [Gene - OMIM - HGNC]
  • MIR520H:microRNA 520h [Gene - OMIM - HGNC]
  • MIR521-1:microRNA 521-1 [Gene - HGNC]
  • MIR521-2:microRNA 521-2 [Gene - HGNC]
  • MIR522:microRNA 522 [Gene - HGNC]
  • MIR523:microRNA 523 [Gene - HGNC]
  • MIR524:microRNA 524 [Gene - HGNC]
  • MIR525:microRNA 525 [Gene - HGNC]
  • MIR526A1:microRNA 526a-1 [Gene - HGNC]
  • MIR526A2:microRNA 526a-2 [Gene - HGNC]
  • MIR526B:microRNA 526b [Gene - HGNC]
  • MIR527:microRNA 527 [Gene - HGNC]
  • MIR6802:microRNA 6802 [Gene - HGNC]
  • MIR6803:microRNA 6803 [Gene - HGNC]
  • MIR6804:microRNA 6804 [Gene - HGNC]
  • MIR6805:microRNA 6805 [Gene - HGNC]
  • MIR6806:microRNA 6806 [Gene - HGNC]
  • MIR6807:microRNA 6807 [Gene - HGNC]
  • MIR7975:microRNA 7975 [Gene - HGNC]
  • MIR8061:microRNA 8061 [Gene - HGNC]
  • MIR935:microRNA 935 [Gene - HGNC]
  • MYADM:myeloid associated differentiation marker [Gene - OMIM - HGNC]
  • MZF1:myeloid zinc finger 1 [Gene - OMIM - HGNC]
  • NCR1:natural cytotoxicity triggering receptor 1 [Gene - OMIM - HGNC]
  • OSCAR:osteoclast associated Ig-like receptor [Gene - OMIM - HGNC]
  • PEG3:paternally expressed 3 [Gene - OMIM - HGNC]
  • PRPF31:pre-mRNA processing factor 31 [Gene - OMIM - HGNC]
  • PRKCG:protein kinase C gamma [Gene - OMIM - HGNC]
  • PPP1R12C:protein phosphatase 1 regulatory subunit 12C [Gene - OMIM - HGNC]
  • PPP6R1:protein phosphatase 6 regulatory subunit 1 [Gene - OMIM - HGNC]
  • PTPRH:protein tyrosine phosphatase receptor type H [Gene - OMIM - HGNC]
  • RFPL4AL1:ret finger protein like 4A like 1 [Gene - HGNC]
  • RFPL4A:ret finger protein like 4A [Gene - OMIM - HGNC]
  • RDH13:retinol dehydrogenase 13 [Gene - HGNC]
  • RPL28:ribosomal protein L28 [Gene - OMIM - HGNC]
  • RPS5:ribosomal protein S5 [Gene - OMIM - HGNC]
  • RPS9:ribosomal protein S9 [Gene - OMIM - HGNC]
  • RNF225:ring finger protein 225 [Gene - HGNC]
  • SSC5D:scavenger receptor cysteine rich family member with 5 domains [Gene - OMIM - HGNC]
  • SHISA7:shisa family member 7 [Gene - OMIM - HGNC]
  • SMIM17:small integral membrane protein 17 [Gene - HGNC]
  • SNORD157:small nucleolar RNA, C/D box 157 [Gene - HGNC]
  • SLC27A5:solute carrier family 27 member 5 [Gene - OMIM - HGNC]
  • SYT5:synaptotagmin 5 [Gene - OMIM - HGNC]
  • TSEN34:tRNA splicing endonuclease subunit 34 [Gene - OMIM - HGNC]
  • TRAPPC2B:trafficking protein particle complex subunit 2B [Gene - OMIM - HGNC]
  • TMC4:transmembrane channel like 4 [Gene - OMIM - HGNC]
  • TMEM150B:transmembrane protein 150B [Gene - OMIM - HGNC]
  • TMEM190:transmembrane protein 190 [Gene - HGNC]
  • TMEM238:transmembrane protein 238 [Gene - HGNC]
  • TMEM86B:transmembrane protein 86B [Gene - OMIM - HGNC]
  • TRIM28:tripartite motif containing 28 [Gene - OMIM - HGNC]
  • TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]
  • TNNT1:troponin T1, slow skeletal type [Gene - OMIM - HGNC]
  • TTYH1:tweety family member 1 [Gene - OMIM - HGNC]
  • UBE2M:ubiquitin conjugating enzyme E2 M [Gene - OMIM - HGNC]
  • UBE2S:ubiquitin conjugating enzyme E2 S [Gene - OMIM - HGNC]
  • USP29:ubiquitin specific peptidase 29 [Gene - OMIM - HGNC]
  • LOC101928804:uncharacterized LOC101928804 [Gene]
  • LOC105372480:uncharacterized LOC105372480 [Gene]
  • LOC107983998:uncharacterized LOC107983998 [Gene]
  • VN1R1:vomeronasal 1 receptor 1 [Gene - OMIM - HGNC]
  • VN1R2:vomeronasal 1 receptor 2 [Gene - HGNC]
  • VN1R4:vomeronasal 1 receptor 4 [Gene - HGNC]
  • ZBTB45:zinc finger and BTB domain containing 45 [Gene - HGNC]
  • ZSCAN18:zinc finger and SCAN domain containing 18 [Gene - HGNC]
  • ZSCAN1:zinc finger and SCAN domain containing 1 [Gene - OMIM - HGNC]
  • ZSCAN22:zinc finger and SCAN domain containing 22 [Gene - OMIM - HGNC]
  • ZSCAN4:zinc finger and SCAN domain containing 4 [Gene - OMIM - HGNC]
  • ZSCAN5A:zinc finger and SCAN domain containing 5A [Gene - HGNC]
  • ZSCAN5B:zinc finger and SCAN domain containing 5B [Gene - HGNC]
  • ZSCAN5C:zinc finger and SCAN domain containing 5C [Gene - HGNC]
  • ZIM2:zinc finger imprinted 2 [Gene - HGNC]
  • ZIM3:zinc finger imprinted 3 [Gene - HGNC]
  • ZNF132:zinc finger protein 132 [Gene - OMIM - HGNC]
  • ZNF134:zinc finger protein 134 [Gene - OMIM - HGNC]
  • ZNF135:zinc finger protein 135 [Gene - OMIM - HGNC]
  • ZNF154:zinc finger protein 154 [Gene - OMIM - HGNC]
  • ZNF160:zinc finger protein 160 [Gene - OMIM - HGNC]
  • ZNF17:zinc finger protein 17 [Gene - OMIM - HGNC]
  • ZNF211:zinc finger protein 211 [Gene - OMIM - HGNC]
  • ZNF256:zinc finger protein 256 [Gene - OMIM - HGNC]
  • ZNF264:zinc finger protein 264 [Gene - OMIM - HGNC]
  • ZNF274:zinc finger protein 274 [Gene - OMIM - HGNC]
  • ZNF28:zinc finger protein 28 [Gene - OMIM - HGNC]
  • ZNF304:zinc finger protein 304 [Gene - OMIM - HGNC]
  • ZNF320:zinc finger protein 320 [Gene - OMIM - HGNC]
  • ZNF324:zinc finger protein 324 [Gene - OMIM - HGNC]
  • ZNF324B:zinc finger protein 324B [Gene - HGNC]
  • ZNF329:zinc finger protein 329 [Gene - HGNC]
  • ZNF331:zinc finger protein 331 [Gene - OMIM - HGNC]
  • ZNF347:zinc finger protein 347 [Gene - HGNC]
  • ZNF415:zinc finger protein 415 [Gene - OMIM - HGNC]
  • ZNF416:zinc finger protein 416 [Gene - HGNC]
  • ZNF417:zinc finger protein 417 [Gene - HGNC]
  • ZNF418:zinc finger protein 418 [Gene - OMIM - HGNC]
  • ZNF419:zinc finger protein 419 [Gene - OMIM - HGNC]
  • ZNF444:zinc finger protein 444 [Gene - OMIM - HGNC]
  • ZNF446:zinc finger protein 446 [Gene - HGNC]
  • ZNF460:zinc finger protein 460 [Gene - OMIM - HGNC]
  • ZNF468:zinc finger protein 468 [Gene - OMIM - HGNC]
  • ZNF470:zinc finger protein 470 [Gene - OMIM - HGNC]
  • ZNF471:zinc finger protein 471 [Gene - OMIM - HGNC]
  • ZNF497:zinc finger protein 497 [Gene - HGNC]
  • ZNF524:zinc finger protein 524 [Gene - HGNC]
  • ZNF525:zinc finger protein 525 [Gene - HGNC]
  • ZNF530:zinc finger protein 530 [Gene - HGNC]
  • ZNF543:zinc finger protein 543 [Gene - OMIM - HGNC]
  • ZNF544:zinc finger protein 544 [Gene - HGNC]
  • ZNF547:zinc finger protein 547 [Gene - HGNC]
  • ZNF548:zinc finger protein 548 [Gene - HGNC]
  • ZNF549:zinc finger protein 549 [Gene - HGNC]
  • ZNF550:zinc finger protein 550 [Gene - HGNC]
  • ZNF551:zinc finger protein 551 [Gene - HGNC]
  • ZNF552:zinc finger protein 552 [Gene - HGNC]
  • ZNF579:zinc finger protein 579 [Gene - HGNC]
  • ZNF580:zinc finger protein 580 [Gene - OMIM - HGNC]
  • ZNF581:zinc finger protein 581 [Gene - HGNC]
  • ZNF582:zinc finger protein 582 [Gene - OMIM - HGNC]
  • ZNF583:zinc finger protein 583 [Gene - HGNC]
  • ZNF584:zinc finger protein 584 [Gene - HGNC]
  • ZNF586:zinc finger protein 586 [Gene - HGNC]
  • ZNF587:zinc finger protein 587 [Gene - HGNC]
  • ZNF587B:zinc finger protein 587B [Gene - HGNC]
  • ZNF600:zinc finger protein 600 [Gene - HGNC]
  • ZNF606:zinc finger protein 606 [Gene - OMIM - HGNC]
  • ZNF611:zinc finger protein 611 [Gene - HGNC]
  • ZNF628:zinc finger protein 628 [Gene - OMIM - HGNC]
  • ZNF665:zinc finger protein 665 [Gene - HGNC]
  • ZNF667:zinc finger protein 667 [Gene - OMIM - HGNC]
  • ZNF671:zinc finger protein 671 [Gene - HGNC]
  • ZNF677:zinc finger protein 677 [Gene - HGNC]
  • ZNF71:zinc finger protein 71 [Gene - OMIM - HGNC]
  • ZNF749:zinc finger protein 749 [Gene - HGNC]
  • ZNF761:zinc finger protein 761 [Gene - HGNC]
  • ZNF765:zinc finger protein 765 [Gene - HGNC]
  • ZNF772:zinc finger protein 772 [Gene - HGNC]
  • ZNF773:zinc finger protein 773 [Gene - HGNC]
  • ZNF776:zinc finger protein 776 [Gene - HGNC]
  • ZNF784:zinc finger protein 784 [Gene - HGNC]
  • ZNF787:zinc finger protein 787 [Gene - HGNC]
  • ZNF805:zinc finger protein 805 [Gene - HGNC]
  • ZNF813:zinc finger protein 813 [Gene - HGNC]
  • ZNF814:zinc finger protein 814 [Gene - HGNC]
  • ZNF816:zinc finger protein 816 [Gene - HGNC]
  • ZNF835:zinc finger protein 835 [Gene - HGNC]
  • ZNF837:zinc finger protein 837 [Gene - HGNC]
  • ZNF83:zinc finger protein 83 [Gene - OMIM - HGNC]
  • ZNF845:zinc finger protein 845 [Gene - HGNC]
  • ZNF865:zinc finger protein 865 [Gene - HGNC]
  • ZNF888:zinc finger protein 888 [Gene - HGNC]
  • ZNF8:zinc finger protein 8 [Gene - OMIM - HGNC]
  • ZIK1:zinc finger protein interacting with K protein 1 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19q13.41-13.43
Genomic location:
Preferred name:
GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3
HGVS:
  • NC_000019.10:g.(?_52612432)_(58581203_?)dup
  • NC_000019.8:g.(?_57807497)_(63784382_?)dup
  • NC_000019.9:g.(?_53115685)_(59092570_?)dup
Links:
dbVar: nssv576381; dbVar: nsv492295
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000173688ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Aug 19, 2010) 		not providedclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000173688.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023