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GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 28, 2013
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:
RCV000143207.6

Allele description [Variation Report for GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1]

GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1

Genes:
  • AFG2A:AFG2 AAA ATPase homolog A [Gene - OMIM - HGNC]
  • LOC129993005:ATAC-STARR-seq lymphoblastoid active region 21845 [Gene]
  • LOC129993007:ATAC-STARR-seq lymphoblastoid active region 21846 [Gene]
  • LOC129993008:ATAC-STARR-seq lymphoblastoid active region 21847 [Gene]
  • LOC129993009:ATAC-STARR-seq lymphoblastoid active region 21848 [Gene]
  • LOC129993010:ATAC-STARR-seq lymphoblastoid active region 21849 [Gene]
  • LOC129993011:ATAC-STARR-seq lymphoblastoid active region 21850 [Gene]
  • LOC129993013:ATAC-STARR-seq lymphoblastoid active region 21851 [Gene]
  • LOC129993014:ATAC-STARR-seq lymphoblastoid active region 21852 [Gene]
  • LOC129993016:ATAC-STARR-seq lymphoblastoid active region 21854 [Gene]
  • LOC129993017:ATAC-STARR-seq lymphoblastoid active region 21855 [Gene]
  • LOC129993018:ATAC-STARR-seq lymphoblastoid active region 21856 [Gene]
  • LOC129993021:ATAC-STARR-seq lymphoblastoid active region 21857 [Gene]
  • LOC129993023:ATAC-STARR-seq lymphoblastoid active region 21858 [Gene]
  • LOC129993024:ATAC-STARR-seq lymphoblastoid active region 21860 [Gene]
  • LOC129993025:ATAC-STARR-seq lymphoblastoid active region 21861 [Gene]
  • LOC129993026:ATAC-STARR-seq lymphoblastoid active region 21862 [Gene]
  • LOC129993027:ATAC-STARR-seq lymphoblastoid active region 21863 [Gene]
  • LOC129993028:ATAC-STARR-seq lymphoblastoid active region 21864 [Gene]
  • LOC129993029:ATAC-STARR-seq lymphoblastoid active region 21865 [Gene]
  • LOC129993033:ATAC-STARR-seq lymphoblastoid active region 21868 [Gene]
  • LOC129993034:ATAC-STARR-seq lymphoblastoid active region 21870 [Gene]
  • LOC129993035:ATAC-STARR-seq lymphoblastoid active region 21871 [Gene]
  • LOC129993036:ATAC-STARR-seq lymphoblastoid active region 21872 [Gene]
  • LOC129993039:ATAC-STARR-seq lymphoblastoid active region 21873 [Gene]
  • LOC129993041:ATAC-STARR-seq lymphoblastoid active region 21874 [Gene]
  • LOC129993043:ATAC-STARR-seq lymphoblastoid active region 21875 [Gene]
  • LOC129993044:ATAC-STARR-seq lymphoblastoid active region 21877 [Gene]
  • LOC129993046:ATAC-STARR-seq lymphoblastoid active region 21881 [Gene]
  • LOC129993047:ATAC-STARR-seq lymphoblastoid active region 21882 [Gene]
  • LOC129993053:ATAC-STARR-seq lymphoblastoid active region 21886 [Gene]
  • LOC129993054:ATAC-STARR-seq lymphoblastoid active region 21887 [Gene]
  • LOC129993065:ATAC-STARR-seq lymphoblastoid active region 21890 [Gene]
  • LOC129993066:ATAC-STARR-seq lymphoblastoid active region 21891 [Gene]
  • LOC129993067:ATAC-STARR-seq lymphoblastoid active region 21892 [Gene]
  • LOC129993068:ATAC-STARR-seq lymphoblastoid active region 21893 [Gene]
  • LOC129993070:ATAC-STARR-seq lymphoblastoid active region 21894 [Gene]
  • LOC129993075:ATAC-STARR-seq lymphoblastoid active region 21895 [Gene]
  • LOC129993076:ATAC-STARR-seq lymphoblastoid active region 21896 [Gene]
  • LOC129993077:ATAC-STARR-seq lymphoblastoid active region 21897 [Gene]
  • LOC129993078:ATAC-STARR-seq lymphoblastoid active region 21898 [Gene]
  • LOC129993079:ATAC-STARR-seq lymphoblastoid active region 21899 [Gene]
  • LOC129993080:ATAC-STARR-seq lymphoblastoid active region 21900 [Gene]
  • LOC129993081:ATAC-STARR-seq lymphoblastoid active region 21901 [Gene]
  • LOC129993082:ATAC-STARR-seq lymphoblastoid active region 21902 [Gene]
  • LOC129993083:ATAC-STARR-seq lymphoblastoid active region 21903 [Gene]
  • LOC129993084:ATAC-STARR-seq lymphoblastoid active region 21904 [Gene]
  • LOC129993085:ATAC-STARR-seq lymphoblastoid active region 21905 [Gene]
  • LOC129993086:ATAC-STARR-seq lymphoblastoid active region 21907 [Gene]
  • LOC129993006:ATAC-STARR-seq lymphoblastoid silent region 15649 [Gene]
  • LOC129993012:ATAC-STARR-seq lymphoblastoid silent region 15653 [Gene]
  • LOC129993015:ATAC-STARR-seq lymphoblastoid silent region 15654 [Gene]
  • LOC129993019:ATAC-STARR-seq lymphoblastoid silent region 15655 [Gene]
  • LOC129993020:ATAC-STARR-seq lymphoblastoid silent region 15656 [Gene]
  • LOC129993022:ATAC-STARR-seq lymphoblastoid silent region 15657 [Gene]
  • LOC129993030:ATAC-STARR-seq lymphoblastoid silent region 15658 [Gene]
  • LOC129993031:ATAC-STARR-seq lymphoblastoid silent region 15659 [Gene]
  • LOC129993032:ATAC-STARR-seq lymphoblastoid silent region 15660 [Gene]
  • LOC129993037:ATAC-STARR-seq lymphoblastoid silent region 15661 [Gene]
  • LOC129993038:ATAC-STARR-seq lymphoblastoid silent region 15662 [Gene]
  • LOC129993040:ATAC-STARR-seq lymphoblastoid silent region 15664 [Gene]
  • LOC129993042:ATAC-STARR-seq lymphoblastoid silent region 15665 [Gene]
  • LOC129993045:ATAC-STARR-seq lymphoblastoid silent region 15667 [Gene]
  • LOC129993048:ATAC-STARR-seq lymphoblastoid silent region 15668 [Gene]
  • LOC129993049:ATAC-STARR-seq lymphoblastoid silent region 15671 [Gene]
  • LOC129993050:ATAC-STARR-seq lymphoblastoid silent region 15672 [Gene]
  • LOC129993051:ATAC-STARR-seq lymphoblastoid silent region 15673 [Gene]
  • LOC129993052:ATAC-STARR-seq lymphoblastoid silent region 15674 [Gene]
  • LOC129993055:ATAC-STARR-seq lymphoblastoid silent region 15675 [Gene]
  • LOC129993056:ATAC-STARR-seq lymphoblastoid silent region 15676 [Gene]
  • LOC129993057:ATAC-STARR-seq lymphoblastoid silent region 15677 [Gene]
  • LOC129993058:ATAC-STARR-seq lymphoblastoid silent region 15678 [Gene]
  • LOC129993059:ATAC-STARR-seq lymphoblastoid silent region 15679 [Gene]
  • LOC129993060:ATAC-STARR-seq lymphoblastoid silent region 15681 [Gene]
  • LOC129993061:ATAC-STARR-seq lymphoblastoid silent region 15682 [Gene]
  • LOC129993062:ATAC-STARR-seq lymphoblastoid silent region 15683 [Gene]
  • LOC129993063:ATAC-STARR-seq lymphoblastoid silent region 15684 [Gene]
  • LOC129993064:ATAC-STARR-seq lymphoblastoid silent region 15685 [Gene]
  • LOC129993069:ATAC-STARR-seq lymphoblastoid silent region 15686 [Gene]
  • LOC129993071:ATAC-STARR-seq lymphoblastoid silent region 15687 [Gene]
  • LOC129993072:ATAC-STARR-seq lymphoblastoid silent region 15688 [Gene]
  • LOC129993073:ATAC-STARR-seq lymphoblastoid silent region 15689 [Gene]
  • LOC129993074:ATAC-STARR-seq lymphoblastoid silent region 15690 [Gene]
  • LOC129993087:ATAC-STARR-seq lymphoblastoid silent region 15691 [Gene]
  • BBS7-DT:BBS7 divergent transcript [Gene - HGNC]
  • LOC126807146:BRD4-independent group 4 enhancer GRCh37_chr4:123495468-123496667 [Gene]
  • LOC126807153:BRD4-independent group 4 enhancer GRCh37_chr4:129390695-129391894 [Gene]
  • BBS12:Bardet-Biedl syndrome 12 [Gene - OMIM - HGNC]
  • BBS7:Bardet-Biedl syndrome 7 [Gene - OMIM - HGNC]
  • LOC126807147:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:123541308-123542507 [Gene]
  • LOC126807148:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:123707239-123708438 [Gene]
  • LOC126807151:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:128607842-128609041 [Gene]
  • LOC126807152:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:129308825-129310024 [Gene]
  • LOC126807158:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:132486813-132488012 [Gene]
  • LOC126807159:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:133440023-133441222 [Gene]
  • LOC116158507:CRISPRi-validated cis-regulatory element chr4.2649 [Gene]
  • FAT4:FAT atypical cadherin 4 [Gene - OMIM - HGNC]
  • LOC109113863:FGF2 promoter region [Gene]
  • IL21-AS1:IL21 antisense RNA 1 [Gene - HGNC]
  • LARP1B:La ribonucleoprotein 1B [Gene - OMIM - HGNC]
  • MAD2L1-DT:MAD2L1 divergent transcript [Gene - HGNC]
  • LOC126807142:MED14-independent group 3 enhancer GRCh37_chr4:119318395-119319594 [Gene]
  • LOC126807145:MED14-independent group 3 enhancer GRCh37_chr4:122633152-122634351 [Gene]
  • LOC126807149:MED14-independent group 3 enhancer GRCh37_chr4:123719262-123720461 [Gene]
  • LOC126807154:MED14-independent group 3 enhancer GRCh37_chr4:129606954-129608153 [Gene]
  • LOC126807155:MED14-independent group 3 enhancer GRCh37_chr4:130504726-130505925 [Gene]
  • LOC126807156:MED14-independent group 3 enhancer GRCh37_chr4:130972816-130974015 [Gene]
  • METTL14-DT:METTL14 divergent transcript [Gene - HGNC]
  • LOC129389232:MPRA-validated peak5097 silencer [Gene]
  • LOC129389233:MPRA-validated peak5100 silencer [Gene]
  • LOC129389234:MPRA-validated peak5101 silencer [Gene]
  • LOC129389235:MPRA-validated peak5104 silencer [Gene]
  • LOC129389236:MPRA-validated peak5106 silencer [Gene]
  • LOC129389237:MPRA-validated peak5117 silencer [Gene]
  • LOC129389238:MPRA-validated peak5118 silencer [Gene]
  • NDST3:N-deacetylase and N-sulfotransferase 3 [Gene - OMIM - HGNC]
  • NDNF-AS1:NDNF antisense RNA 1 [Gene - HGNC]
  • LOC111413048:NFE2L2 motif-containing MPRA enhancer 199 [Gene]
  • LOC132089005:Neanderthal introgressed variant-containing enhancer experimental_72414 [Gene]
  • LOC132089006:Neanderthal introgressed variant-containing enhancer experimental_72419 [Gene]
  • LOC132089007:Neanderthal introgressed variant-containing enhancer experimental_72528 [Gene]
  • LOC132089008:Neanderthal introgressed variant-containing enhancer experimental_72556 [Gene]
  • LOC132089009:Neanderthal introgressed variant-containing enhancer experimental_72587 [Gene]
  • LOC132089010:Neanderthal introgressed variant-containing enhancer experimental_72607 [Gene]
  • LOC132089011:Neanderthal introgressed variant-containing enhancer experimental_72637 [Gene]
  • LOC132089012:Neanderthal introgressed variant-containing enhancer experimental_72694 [Gene]
  • LOC132090710:Neanderthal introgressed variant-containing enhancer experimental_72756 [Gene]
  • LOC132089013:Neanderthal introgressed variant-containing enhancer experimental_73007 [Gene]
  • LOC132089014:Neanderthal introgressed variant-containing enhancer experimental_73151 [Gene]
  • LOC132090711:Neanderthal introgressed variant-containing enhancer experimental_73157 [Gene]
  • LOC132089015:Neanderthal introgressed variant-containing enhancer experimental_73174 [Gene]
  • LOC132089016:Neanderthal introgressed variant-containing enhancer experimental_73198 [Gene]
  • LOC132089017:Neanderthal introgressed variant-containing enhancer experimental_73219 [Gene]
  • LOC132089018:Neanderthal introgressed variant-containing enhancer experimental_73301 [Gene]
  • LOC132089019:Neanderthal introgressed variant-containing enhancer experimental_73347 [Gene]
  • LOC132089020:Neanderthal introgressed variant-containing enhancer experimental_73368 [Gene]
  • LOC132089021:Neanderthal introgressed variant-containing enhancer experimental_73373 [Gene]
  • LOC132089022:Neanderthal introgressed variant-containing enhancer experimental_73387 [Gene]
  • LOC132090712:Neanderthal introgressed variant-containing enhancer experimental_73515 [Gene]
  • LOC132089023:Neanderthal introgressed variant-containing enhancer experimental_73569 [Gene]
  • LOC132090713:Neanderthal introgressed variant-containing enhancer experimental_73803 [Gene]
  • LOC132089024:Neanderthal introgressed variant-containing enhancer experimental_73815 [Gene]
  • LOC132089025:Neanderthal introgressed variant-containing enhancer experimental_73859 [Gene]
  • LOC132089026:Neanderthal introgressed variant-containing enhancer experimental_73920 [Gene]
  • LOC132089027:Neanderthal introgressed variant-containing enhancer experimental_73968 [Gene]
  • LOC132090714:Neanderthal introgressed variant-containing enhancer experimental_73985 [Gene]
  • LOC132089028:Neanderthal introgressed variant-containing enhancer experimental_73994 [Gene]
  • LOC132089029:Neanderthal introgressed variant-containing enhancer experimental_74020 [Gene]
  • LOC132089030:Neanderthal introgressed variant-containing enhancer experimental_74071 [Gene]
  • LOC132089031:Neanderthal introgressed variant-containing enhancer experimental_74072 [Gene]
  • LOC132089032:Neanderthal introgressed variant-containing enhancer experimental_74204 [Gene]
  • LOC132089033:Neanderthal introgressed variant-containing enhancer experimental_74235 [Gene]
  • LOC132089034:Neanderthal introgressed variant-containing enhancer experimental_74251 [Gene]
  • LOC132089035:Neanderthal introgressed variant-containing enhancer experimental_74277 [Gene]
  • LOC132089036:Neanderthal introgressed variant-containing enhancer experimental_74389 [Gene]
  • LOC132089037:Neanderthal introgressed variant-containing enhancer experimental_74415 [Gene]
  • LOC132089038:Neanderthal introgressed variant-containing enhancer experimental_74418 [Gene]
  • LOC132089039:Neanderthal introgressed variant-containing enhancer experimental_74428 [Gene]
  • LOC132089040:Neanderthal introgressed variant-containing enhancer experimental_74530 [Gene]
  • LOC132089041:Neanderthal introgressed variant-containing enhancer experimental_74536 [Gene]
  • LOC126807143:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:120130431-120131630 [Gene]
  • LOC126807144:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:122611545-122612744 [Gene]
  • LOC126807150:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:127771052-127772251 [Gene]
  • LOC123480930:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:128629462-128630661 [Gene]
  • LOC126807157:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:131553588-131554787 [Gene]
  • PCDH10-DT:PCDH10 divergent transcript [Gene - HGNC]
  • PRDM5:PR/SET domain 5 [Gene - OMIM - HGNC]
  • SEC24D:SEC24 homolog D, COPII coat complex component [Gene - OMIM - HGNC]
  • LOC123480924:Sharpr-MPRA regulatory region 10032 [Gene]
  • LOC112935978:Sharpr-MPRA regulatory region 11420 [Gene]
  • LOC123480926:Sharpr-MPRA regulatory region 1143 [Gene]
  • LOC121725182:Sharpr-MPRA regulatory region 11880 [Gene]
  • LOC123480932:Sharpr-MPRA regulatory region 12082 [Gene]
  • LOC121725187:Sharpr-MPRA regulatory region 12612 [Gene]
  • LOC121725185:Sharpr-MPRA regulatory region 12847 [Gene]
  • LOC123480931:Sharpr-MPRA regulatory region 13521 [Gene]
  • LOC112939918:Sharpr-MPRA regulatory region 13606 [Gene]
  • LOC121725186:Sharpr-MPRA regulatory region 14026 [Gene]
  • LOC123480927:Sharpr-MPRA regulatory region 14356 [Gene]
  • LOC112935979:Sharpr-MPRA regulatory region 2230 [Gene]
  • LOC121725183:Sharpr-MPRA regulatory region 3409 [Gene]
  • LOC123480922:Sharpr-MPRA regulatory region 4201 [Gene]
  • LOC112935980:Sharpr-MPRA regulatory region 4593 [Gene]
  • LOC123480923:Sharpr-MPRA regulatory region 4773 [Gene]
  • LOC121056742:Sharpr-MPRA regulatory region 4891 [Gene]
  • LOC123480929:Sharpr-MPRA regulatory region 5357 [Gene]
  • LOC121725188:Sharpr-MPRA regulatory region 6093 [Gene]
  • LOC123480925:Sharpr-MPRA regulatory region 6240 [Gene]
  • LOC121056741:Sharpr-MPRA regulatory region 6302 [Gene]
  • LOC123480933:Sharpr-MPRA regulatory region 780 [Gene]
  • LOC112935977:Sharpr-MPRA regulatory region 8715 [Gene]
  • LOC123480928:Sharpr-MPRA regulatory region 9584 [Gene]
  • TNIP3:TNFAIP3 interacting protein 3 [Gene - OMIM - HGNC]
  • LOC110121089:VISTA enhancer hs1389 [Gene]
  • LOC110121129:VISTA enhancer hs1525 [Gene]
  • LOC110121150:VISTA enhancer hs1582 [Gene]
  • ABHD18:abhydrolase domain containing 18 [Gene - HGNC]
  • ADAD1:adenosine deaminase domain containing 1 [Gene - OMIM - HGNC]
  • ANKRD50:ankyrin repeat domain containing 50 [Gene - OMIM - HGNC]
  • ANXA5:annexin A5 [Gene - OMIM - HGNC]
  • BLTP1:bridge-like lipid transfer protein family member 1 [Gene - OMIM - HGNC]
  • C4orf33:chromosome 4 open reading frame 33 [Gene - HGNC]
  • C4orf3:chromosome 4 open reading frame 3 [Gene - OMIM - HGNC]
  • CCNA2:cyclin A2 [Gene - OMIM - HGNC]
  • EXOSC9:exosome component 9 [Gene - OMIM - HGNC]
  • FABP2:fatty acid binding protein 2 [Gene - OMIM - HGNC]
  • FGF2:fibroblast growth factor 2 [Gene - OMIM - HGNC]
  • HSPA4L:heat shock protein family A (Hsp70) member 4 like [Gene - OMIM - HGNC]
  • IL21:interleukin 21 [Gene - OMIM - HGNC]
  • IL2:interleukin 2 [Gene - OMIM - HGNC]
  • INTU:inturned planar cell polarity protein [Gene - OMIM - HGNC]
  • JADE1:jade family PHD finger 1 [Gene - OMIM - HGNC]
  • LINC01061:long intergenic non-protein coding RNA 1061 [Gene - HGNC]
  • LINC01091:long intergenic non-protein coding RNA 1091 [Gene - HGNC]
  • LINC01256:long intergenic non-protein coding RNA 1256 [Gene - HGNC]
  • LINC01365:long intergenic non-protein coding RNA 1365 [Gene - HGNC]
  • LINC01378:long intergenic non-protein coding RNA 1378 [Gene - HGNC]
  • LINC02262:long intergenic non-protein coding RNA 2262 [Gene - HGNC]
  • LINC02263:long intergenic non-protein coding RNA 2263 [Gene - HGNC]
  • LINC02264:long intergenic non-protein coding RNA 2264 [Gene - HGNC]
  • LINC02377:long intergenic non-protein coding RNA 2377 [Gene - HGNC]
  • LINC02379:long intergenic non-protein coding RNA 2379 [Gene - HGNC]
  • LINC02465:long intergenic non-protein coding RNA 2465 [Gene - HGNC]
  • LINC02466:long intergenic non-protein coding RNA 2466 [Gene - HGNC]
  • LINC02479:long intergenic non-protein coding RNA 2479 [Gene - HGNC]
  • LINC02502:long intergenic non-protein coding RNA 2502 [Gene - HGNC]
  • LINC02516:long intergenic non-protein coding RNA 2516 [Gene - HGNC]
  • LINC02615:long intergenic non-protein coding RNA 2615 [Gene - HGNC]
  • MFSD8:major facilitator superfamily domain containing 8 [Gene - OMIM - HGNC]
  • METTL14:methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit [Gene - OMIM - HGNC]
  • MIR2054:microRNA 2054 [Gene - HGNC]
  • MAD2L1:mitotic arrest deficient 2 like 1 [Gene - OMIM - HGNC]
  • MYOZ2:myozenin 2 [Gene - OMIM - HGNC]
  • NDNF:neuron derived neurotrophic factor [Gene - OMIM - HGNC]
  • NUDT6:nudix hydrolase 6 [Gene - OMIM - HGNC]
  • PDE5A:phosphodiesterase 5A [Gene - OMIM - HGNC]
  • PLK4:polo like kinase 4 [Gene - OMIM - HGNC]
  • PGRMC2:progesterone receptor membrane component 2 [Gene - OMIM - HGNC]
  • PCDH10:protocadherin 10 [Gene - OMIM - HGNC]
  • QRFPR:pyroglutamylated RFamide peptide receptor [Gene - OMIM - HGNC]
  • PRSS12:serine protease 12 [Gene - OMIM - HGNC]
  • SMIM43:small integral membrane protein 43 [Gene - HGNC]
  • SNHG27:small nucleolar RNA host gene 27 [Gene - HGNC]
  • SNHG8:small nucleolar RNA host gene 8 [Gene - HGNC]
  • SNORA24:small nucleolar RNA, H/ACA box 24 [Gene - HGNC]
  • SCLT1:sodium channel and clathrin linker 1 [Gene - OMIM - HGNC]
  • SLC25A31:solute carrier family 25 member 31 [Gene - OMIM - HGNC]
  • SPRY1:sprouty RTK signaling antagonist 1 [Gene - OMIM - HGNC]
  • SYNPO2:synaptopodin 2 [Gene - HGNC]
  • TRC-GCA2-1:tRNA-Cys (anticodon GCA) 2-1 [Gene - HGNC]
  • TRPC3:transient receptor potential cation channel subfamily C member 3 [Gene - OMIM - HGNC]
  • USP53:ubiquitin specific peptidase 53 [Gene - OMIM - HGNC]
  • PP12613:uncharacterized LOC100192379 [Gene]
  • LOC101927259:uncharacterized LOC101927259 [Gene]
  • LOC101929762:uncharacterized LOC101929762 [Gene]
  • LOC107986192:uncharacterized LOC107986192 [Gene]
Variant type:
copy number loss
Cytogenetic location:
4q26-28.3
Genomic location:
Preferred name:
GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1
HGVS:
  • NC_000004.12:g.(?_117351881)_(133565667_?)del
  • NC_000004.10:g.(?_118492485)_(134706272_?)del
  • NC_000004.11:g.(?_118273037)_(134486822_?)del
Links:
dbVar: nssv1610198; dbVar: nsv932015
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000181498ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jan 28, 2013) 		unknownclinical 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, SCV000181498.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024