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GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 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:
RCV000135311.7

Allele description [Variation Report for GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1]

GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1

Genes:
  • ASB15-AS1:ASB15 antisense RNA 1 [Gene - HGNC]
  • LOC129999148:ATAC-STARR-seq lymphoblastoid active region 26523 [Gene]
  • LOC129999154:ATAC-STARR-seq lymphoblastoid active region 26524 [Gene]
  • LOC129999155:ATAC-STARR-seq lymphoblastoid active region 26525 [Gene]
  • LOC129999158:ATAC-STARR-seq lymphoblastoid active region 26526 [Gene]
  • LOC129999159:ATAC-STARR-seq lymphoblastoid active region 26527 [Gene]
  • LOC129999160:ATAC-STARR-seq lymphoblastoid active region 26528 [Gene]
  • LOC129999161:ATAC-STARR-seq lymphoblastoid active region 26529 [Gene]
  • LOC129999162:ATAC-STARR-seq lymphoblastoid active region 26530 [Gene]
  • LOC129999163:ATAC-STARR-seq lymphoblastoid active region 26531 [Gene]
  • LOC129999164:ATAC-STARR-seq lymphoblastoid active region 26532 [Gene]
  • LOC129999166:ATAC-STARR-seq lymphoblastoid active region 26533 [Gene]
  • LOC129999167:ATAC-STARR-seq lymphoblastoid active region 26534 [Gene]
  • LOC129999171:ATAC-STARR-seq lymphoblastoid active region 26535 [Gene]
  • LOC129999172:ATAC-STARR-seq lymphoblastoid active region 26536 [Gene]
  • LOC129999173:ATAC-STARR-seq lymphoblastoid active region 26537 [Gene]
  • LOC129999177:ATAC-STARR-seq lymphoblastoid active region 26539 [Gene]
  • LOC129999181:ATAC-STARR-seq lymphoblastoid active region 26540 [Gene]
  • LOC129999183:ATAC-STARR-seq lymphoblastoid active region 26541 [Gene]
  • LOC129999184:ATAC-STARR-seq lymphoblastoid active region 26542 [Gene]
  • LOC129999185:ATAC-STARR-seq lymphoblastoid active region 26543 [Gene]
  • LOC129999186:ATAC-STARR-seq lymphoblastoid active region 26544 [Gene]
  • LOC129999187:ATAC-STARR-seq lymphoblastoid active region 26545 [Gene]
  • LOC129999188:ATAC-STARR-seq lymphoblastoid active region 26546 [Gene]
  • LOC129999189:ATAC-STARR-seq lymphoblastoid active region 26548 [Gene]
  • LOC129999190:ATAC-STARR-seq lymphoblastoid active region 26549 [Gene]
  • LOC129999193:ATAC-STARR-seq lymphoblastoid active region 26550 [Gene]
  • LOC129999194:ATAC-STARR-seq lymphoblastoid active region 26551 [Gene]
  • LOC129999195:ATAC-STARR-seq lymphoblastoid active region 26552 [Gene]
  • LOC129999196:ATAC-STARR-seq lymphoblastoid active region 26553 [Gene]
  • LOC129999197:ATAC-STARR-seq lymphoblastoid active region 26554 [Gene]
  • LOC129999200:ATAC-STARR-seq lymphoblastoid active region 26555 [Gene]
  • LOC129999201:ATAC-STARR-seq lymphoblastoid active region 26556 [Gene]
  • LOC129999203:ATAC-STARR-seq lymphoblastoid active region 26557 [Gene]
  • LOC129999204:ATAC-STARR-seq lymphoblastoid active region 26558 [Gene]
  • LOC129999205:ATAC-STARR-seq lymphoblastoid active region 26559 [Gene]
  • LOC129999206:ATAC-STARR-seq lymphoblastoid active region 26560 [Gene]
  • LOC129999207:ATAC-STARR-seq lymphoblastoid active region 26561 [Gene]
  • LOC129999208:ATAC-STARR-seq lymphoblastoid active region 26562 [Gene]
  • LOC129999211:ATAC-STARR-seq lymphoblastoid active region 26563 [Gene]
  • LOC129999212:ATAC-STARR-seq lymphoblastoid active region 26564 [Gene]
  • LOC129999213:ATAC-STARR-seq lymphoblastoid active region 26565 [Gene]
  • LOC129999219:ATAC-STARR-seq lymphoblastoid active region 26566 [Gene]
  • LOC129999224:ATAC-STARR-seq lymphoblastoid active region 26567 [Gene]
  • LOC129999225:ATAC-STARR-seq lymphoblastoid active region 26570 [Gene]
  • LOC129999227:ATAC-STARR-seq lymphoblastoid active region 26571 [Gene]
  • LOC129999228:ATAC-STARR-seq lymphoblastoid active region 26572 [Gene]
  • LOC129999147:ATAC-STARR-seq lymphoblastoid silent region 18547 [Gene]
  • LOC129999149:ATAC-STARR-seq lymphoblastoid silent region 18548 [Gene]
  • LOC129999150:ATAC-STARR-seq lymphoblastoid silent region 18549 [Gene]
  • LOC129999151:ATAC-STARR-seq lymphoblastoid silent region 18550 [Gene]
  • LOC129999152:ATAC-STARR-seq lymphoblastoid silent region 18551 [Gene]
  • LOC129999153:ATAC-STARR-seq lymphoblastoid silent region 18552 [Gene]
  • LOC129999156:ATAC-STARR-seq lymphoblastoid silent region 18553 [Gene]
  • LOC129999157:ATAC-STARR-seq lymphoblastoid silent region 18555 [Gene]
  • LOC129999165:ATAC-STARR-seq lymphoblastoid silent region 18556 [Gene]
  • LOC129999168:ATAC-STARR-seq lymphoblastoid silent region 18557 [Gene]
  • LOC129999169:ATAC-STARR-seq lymphoblastoid silent region 18558 [Gene]
  • LOC129999170:ATAC-STARR-seq lymphoblastoid silent region 18559 [Gene]
  • LOC129999174:ATAC-STARR-seq lymphoblastoid silent region 18560 [Gene]
  • LOC129999175:ATAC-STARR-seq lymphoblastoid silent region 18561 [Gene]
  • LOC129999176:ATAC-STARR-seq lymphoblastoid silent region 18562 [Gene]
  • LOC129999178:ATAC-STARR-seq lymphoblastoid silent region 18564 [Gene]
  • LOC129999179:ATAC-STARR-seq lymphoblastoid silent region 18567 [Gene]
  • LOC129999180:ATAC-STARR-seq lymphoblastoid silent region 18568 [Gene]
  • LOC129999182:ATAC-STARR-seq lymphoblastoid silent region 18569 [Gene]
  • LOC129999191:ATAC-STARR-seq lymphoblastoid silent region 18570 [Gene]
  • LOC129999192:ATAC-STARR-seq lymphoblastoid silent region 18571 [Gene]
  • LOC129999198:ATAC-STARR-seq lymphoblastoid silent region 18572 [Gene]
  • LOC129999199:ATAC-STARR-seq lymphoblastoid silent region 18573 [Gene]
  • LOC129999202:ATAC-STARR-seq lymphoblastoid silent region 18574 [Gene]
  • LOC129999209:ATAC-STARR-seq lymphoblastoid silent region 18576 [Gene]
  • LOC129999210:ATAC-STARR-seq lymphoblastoid silent region 18577 [Gene]
  • LOC129999214:ATAC-STARR-seq lymphoblastoid silent region 18578 [Gene]
  • LOC129999215:ATAC-STARR-seq lymphoblastoid silent region 18579 [Gene]
  • LOC129999216:ATAC-STARR-seq lymphoblastoid silent region 18580 [Gene]
  • LOC129999217:ATAC-STARR-seq lymphoblastoid silent region 18581 [Gene]
  • LOC129999218:ATAC-STARR-seq lymphoblastoid silent region 18582 [Gene]
  • LOC129999220:ATAC-STARR-seq lymphoblastoid silent region 18583 [Gene]
  • LOC129999221:ATAC-STARR-seq lymphoblastoid silent region 18584 [Gene]
  • LOC129999222:ATAC-STARR-seq lymphoblastoid silent region 18585 [Gene]
  • LOC129999223:ATAC-STARR-seq lymphoblastoid silent region 18586 [Gene]
  • LOC129999226:ATAC-STARR-seq lymphoblastoid silent region 18587 [Gene]
  • LOC129999229:ATAC-STARR-seq lymphoblastoid silent region 18589 [Gene]
  • LOC126860162:BRD4-independent group 4 enhancer GRCh37_chr7:118085129-118086328 [Gene]
  • LOC126860167:BRD4-independent group 4 enhancer GRCh37_chr7:123197145-123198344 [Gene]
  • LOC126860157:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:116363882-116365081 [Gene]
  • LOC126860161:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:117590690-117591889 [Gene]
  • LOC126860163:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:119184748-119185947 [Gene]
  • LOC126860168:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:123534015-123535214 [Gene]
  • CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
  • LOC113523647:CFTR +21.5 kb DNase I hypersensitive site [Gene]
  • LOC111674479:CFTR +36.6 kb downstream enhancer [Gene]
  • LOC111674476:CFTR -35 kb upstream enhancer [Gene]
  • LOC111674478:CFTR -44 kb upstream enhancer [Gene]
  • CFTR-AS1:CFTR antisense RNA 1 [Gene - HGNC]
  • LOC111674464:CFTR intron 1 enhancer [Gene]
  • LOC111674475:CFTR intron 11 enhancer [Gene]
  • LOC113633875:CFTR intron 18a DNase I hypersensitive site [Gene]
  • LOC113633876:CFTR intron 18b DNase I hypersensitive site [Gene]
  • LOC113633877:CFTR intron 19 DNase I hypersensitive site [Gene]
  • LOC113664106:CFTR intron 2 DNase I hypersensitive site [Gene]
  • LOC111674467:CFTR intron 20 enhancer [Gene]
  • LOC111674468:CFTR intron 21 enhancer [Gene]
  • LOC111674477:CFTR intron 23 enhancer [Gene]
  • LOC113664107:CFTR intron 3 DNase I hypersensitive site [Gene]
  • LOC111674463:CFTR promoter region [Gene]
  • LOC116186911:CRISPRi-validated cis-regulatory element chr7.4218 [Gene]
  • LOC108491823:CTTNBP2 intron enhancer-blocking element 7-1-1 [Gene]
  • LOC111674470:DNase I hypersensitive region 15.6 kb downstream of CFTR [Gene]
  • LOC111674471:DNase I hypersensitive region 5.4 to 7.4 kb downstream of CFTR [Gene]
  • LOC111674466:DNase I hypersensitive site -20.9 kb upstream of CFTR [Gene]
  • LOC111674465:DNase I hypersensitive site -80 kb upstream of CFTR [Gene]
  • LOC113604967:DNase I hypersensitive site 83.7 kb downstream of CFTR [Gene]
  • LOC111674474:DNase I hypersensitive site in intron 10c of CFTR [Gene]
  • LOC113633874:DNase I hypersensitive site in intron 18 of CFTR [Gene]
  • LOC111674473:DNase I hypersensitive sites in intron 10ab of CFTR [Gene]
  • LOC111674472:DNase I hypersensitive sites in introns 16 and 17a of CFTR [Gene]
  • FAM3C:FAM3 metabolism regulating signaling molecule C [Gene - OMIM - HGNC]
  • FEZF1:FEZ family zinc finger 1 [Gene - OMIM - HGNC]
  • FEZF1-AS1:FEZF1 antisense RNA 1 [Gene - HGNC]
  • GPR37:G protein-coupled receptor 37 [Gene - OMIM - HGNC]
  • IQUB:IQ motif and ubiquitin domain containing [Gene - OMIM - HGNC]
  • LSM8:LSM8 homolog, U6 small nuclear RNA associated [Gene - OMIM - HGNC]
  • LOC111365177:MED14-independent group 3 enhancer GRCh37_chr7:116412324-116413523 [Gene]
  • LOC126860159:MED14-independent group 3 enhancer GRCh37_chr7:116659304-116660503 [Gene]
  • LOC126860160:MED14-independent group 3 enhancer GRCh37_chr7:117270281-117271480 [Gene]
  • LOC126860164:MED14-independent group 3 enhancer GRCh37_chr7:121145116-121146315 [Gene]
  • LOC126860165:MED14-independent group 3 enhancer GRCh37_chr7:121150965-121152164 [Gene]
  • MET:MET proto-oncogene, receptor tyrosine kinase [Gene - OMIM - HGNC]
  • LOC129389847:MPRA-validated peak6696 silencer [Gene]
  • LOC129389848:MPRA-validated peak6699 silencer [Gene]
  • LOC129389849:MPRA-validated peak6701 silencer [Gene]
  • LOC129389850:MPRA-validated peak6703 silencer [Gene]
  • LOC129389851:MPRA-validated peak6707 silencer [Gene]
  • LOC129389852:MPRA-validated peak6708 silencer [Gene]
  • LOC129389853:MPRA-validated peak6710 silencer [Gene]
  • LOC129389854:MPRA-validated peak6711 silencer [Gene]
  • MDFIC:MyoD family inhibitor domain containing [Gene - OMIM - HGNC]
  • NDUFA5:NADH:ubiquinone oxidoreductase subunit A5 [Gene - OMIM - HGNC]
  • LOC126860154:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:115224842-115226041 [Gene]
  • LOC126860155:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:116082532-116083731 [Gene]
  • LOC126860156:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:116273493-116274692 [Gene]
  • LOC126860158:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:116416081-116417280 [Gene]
  • LOC126860166:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:121184357-121185556 [Gene]
  • POT1-AS1:POT1 antisense RNA 1 [Gene - HGNC]
  • SSU72L6:SSU72 like 6 [Gene - HGNC]
  • ST7-AS1:ST7 antisense RNA 1 [Gene - HGNC]
  • ST7-AS2:ST7 antisense RNA 2 [Gene - HGNC]
  • ST7-OT3:ST7 overlapping transcript 3 [Gene - HGNC]
  • ST7-OT4:ST7 overlapping transcript 4 [Gene - HGNC]
  • LOC123956218:Sharpr-MPRA regulatory region 10744 [Gene]
  • LOC123956216:Sharpr-MPRA regulatory region 12085 [Gene]
  • LOC113687191:Sharpr-MPRA regulatory region 12289 [Gene]
  • LOC121740695:Sharpr-MPRA regulatory region 15278 [Gene]
  • LOC123956212:Sharpr-MPRA regulatory region 15446 [Gene]
  • LOC121175361:Sharpr-MPRA regulatory region 15503 [Gene]
  • LOC121740697:Sharpr-MPRA regulatory region 1923 [Gene]
  • LOC121740694:Sharpr-MPRA regulatory region 1934 [Gene]
  • LOC123956215:Sharpr-MPRA regulatory region 2110 [Gene]
  • LOC123956213:Sharpr-MPRA regulatory region 4219 [Gene]
  • LOC123956217:Sharpr-MPRA regulatory region 5263 [Gene]
  • LOC113687193:Sharpr-MPRA regulatory region 5954 [Gene]
  • LOC121175362:Sharpr-MPRA regulatory region 6449 [Gene]
  • LOC113687190:Sharpr-MPRA regulatory region 6568 [Gene]
  • LOC113687192:Sharpr-MPRA regulatory region 7081 [Gene]
  • LOC121740696:Sharpr-MPRA regulatory region 8884 [Gene]
  • LOC123956214:Sharpr-MPRA regulatory region 9016 [Gene]
  • LOC110120983:VISTA enhancer hs1080 [Gene]
  • LOC110121022:VISTA enhancer hs1192 [Gene]
  • LOC110121207:VISTA enhancer hs1798 [Gene]
  • LOC110121210:VISTA enhancer hs1809 [Gene]
  • LOC110121252:VISTA enhancer hs2071 [Gene]
  • LOC110120618:VISTA enhancer hs218 [Gene]
  • LOC110120619:VISTA enhancer hs222 [Gene]
  • LOC110120753:VISTA enhancer hs720 [Gene]
  • LOC110120810:VISTA enhancer hs956 [Gene]
  • LOC110120813:VISTA enhancer hs966 [Gene]
  • LOC110120822:VISTA enhancer hs999 [Gene]
  • WASL-DT:WASL divergent transcript [Gene - HGNC]
  • WASL:WASP like actin nucleation promoting factor [Gene - OMIM - HGNC]
  • WNT16:Wnt family member 16 [Gene - OMIM - HGNC]
  • WNT2:Wnt family member 2 [Gene - OMIM - HGNC]
  • AASS:aminoadipate-semialdehyde synthase [Gene - OMIM - HGNC]
  • ASB15:ankyrin repeat and SOCS box containing 15 [Gene - OMIM - HGNC]
  • ANKRD7:ankyrin repeat domain 7 [Gene - OMIM - HGNC]
  • ASZ1:ankyrin repeat, SAM and basic leucine zipper domain containing 1 [Gene - OMIM - HGNC]
  • CPED1:cadherin like and PC-esterase domain containing 1 [Gene - OMIM - HGNC]
  • CADPS2:calcium dependent secretion activator 2 [Gene - OMIM - HGNC]
  • CAPZA2:capping actin protein of muscle Z-line subunit alpha 2 [Gene - OMIM - HGNC]
  • CAV1:caveolin 1 [Gene - OMIM - HGNC]
  • CAV2:caveolin 2 [Gene - OMIM - HGNC]
  • CTTNBP2:cortactin binding protein 2 [Gene - OMIM - HGNC]
  • COMETT:cytosolic oncogenic antisense to MET transcript [Gene - HGNC]
  • FOXP2:forkhead box P2 [Gene - OMIM - HGNC]
  • LOC113219433:greater CFTR locus negative regulatory element CR10 [Gene]
  • LOC113219440:greater CFTR locus negative regulatory element CR11 [Gene]
  • LOC113219443:greater CFTR locus negative regulatory element CR15 [Gene]
  • LOC113219445:greater CFTR locus negative regulatory element CR17 [Gene]
  • LOC113219446:greater CFTR locus negative regulatory element CR18 [Gene]
  • LOC113219471:greater CFTR locus negative regulatory element CR19 [Gene]
  • LOC113219472:greater CFTR locus negative regulatory element CR20 [Gene]
  • LOC113225348:greater CFTR locus negative regulatory element CR27 [Gene]
  • LOC113225350:greater CFTR locus negative regulatory element CR28 [Gene]
  • LOC113219437:greater CFTR locus negative regulatory element CR2 [Gene]
  • LOC113219438:greater CFTR locus negative regulatory element CR3 [Gene]
  • LOC113219431:greater CFTR locus negative regulatory element CR5 [Gene]
  • LOC113219439:greater CFTR locus negative regulatory element CR6 [Gene]
  • LOC113219432:greater CFTR locus negative regulatory element CR8 [Gene]
  • LOC113219444:greater CFTR locus negative regulatory element CR9 [Gene]
  • LOC113219474:greater CFTR locus negative regulatory element NR11 [Gene]
  • LOC113219475:greater CFTR locus negative regulatory element NR12 [Gene]
  • LOC113225349:greater CFTR locus negative regulatory element NR13 [Gene]
  • LOC113225351:greater CFTR locus negative regulatory element NR14 [Gene]
  • LOC113225352:greater CFTR locus negative regulatory element NR19 [Gene]
  • LOC113219436:greater CFTR locus negative regulatory element NR1 [Gene]
  • LOC113219441:greater CFTR locus negative regulatory element NR2 [Gene]
  • LOC113219434:greater CFTR locus negative regulatory element NR4 [Gene]
  • LOC113219447:greater CFTR locus negative regulatory element NR9 [Gene]
  • LOC113219442:greater CFTR locus negative regulatory elements CR12 and CR13 [Gene]
  • HYAL4:hyaluronidase 4 [Gene - OMIM - HGNC]
  • ING3:inhibitor of growth family member 3 [Gene - OMIM - HGNC]
  • LMOD2:leiomodin 2 [Gene - OMIM - HGNC]
  • LINC01392:long intergenic non-protein coding RNA 1392 [Gene - HGNC]
  • LINC01393:long intergenic non-protein coding RNA 1393 [Gene - HGNC]
  • LINC02476:long intergenic non-protein coding RNA 2476 [Gene - HGNC]
  • LINC02830:long intergenic non-protein coding RNA 2830 [Gene - HGNC]
  • LINC03043:long intergenic non-protein coding RNA 3043 [Gene - HGNC]
  • LOC128772312:melanoma risk locus-associated MPRA allelic enhancer 7:124397814 [Gene]
  • LOC128772313:melanoma risk locus-associated MPRA allelic enhancer 7:124449868 [Gene]
  • LOC128772314:melanoma risk locus-associated MPRA allelic enhancer 7:124542275 [Gene]
  • MIR3666:microRNA 3666 [Gene - HGNC]
  • MIR6132:microRNA 6132 [Gene - HGNC]
  • KCND2:potassium voltage-gated channel subfamily D member 2 [Gene - OMIM - HGNC]
  • POT1:protection of telomeres 1 [Gene - OMIM - HGNC]
  • PTPRZ1:protein tyrosine phosphatase receptor type Z1 [Gene - OMIM - HGNC]
  • RNF133:ring finger protein 133 [Gene - OMIM - HGNC]
  • RNF148:ring finger protein 148 [Gene - HGNC]
  • SNORA25B:small nucleolar RNA, H/ACA box 25B [Gene - HGNC]
  • SLC13A1:solute carrier family 13 member 1 [Gene - OMIM - HGNC]
  • SPAM1:sperm adhesion molecule 1 [Gene - OMIM - HGNC]
  • ST7:suppression of tumorigenicity 7 [Gene - OMIM - HGNC]
  • TAS2R16:taste 2 receptor member 16 [Gene - OMIM - HGNC]
  • TES:testin LIM domain protein [Gene - OMIM - HGNC]
  • TSPAN12:tetraspanin 12 [Gene - OMIM - HGNC]
  • TFEC:transcription factor EC [Gene - OMIM - HGNC]
  • TMEM229A:transmembrane protein 229A [Gene - HGNC]
  • LOC100506489:uncharacterized LOC100506489 [Gene]
  • LOC101928211:uncharacterized LOC101928211 [Gene]
  • LOC101928254:uncharacterized LOC101928254 [Gene]
  • LOC101928283:uncharacterized LOC101928283 [Gene]
  • LOC102724434:uncharacterized LOC102724434 [Gene]
  • LOC105375483:uncharacterized LOC105375483 [Gene]
  • LOC105375484:uncharacterized LOC105375484 [Gene]
  • LOC107986838:uncharacterized LOC107986838 [Gene]
Variant type:
copy number loss
Cytogenetic location:
7q31.1-31.33
Genomic location:
Preferred name:
GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1
HGVS:
  • NC_000007.14:g.(?_114142477)_(125840381_?)del
  • NC_000007.12:g.(?_113569768)_(125267671_?)del
  • NC_000007.13:g.(?_113782532)_(125480435_?)del
Links:
dbVar: nssv585198; dbVar: nsv498485
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
SCV000174991ISCA Site 6

See additional submitters

no assertion criteria provided
Pathogenic
(Nov 30, 2010) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot 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 6, SCV000174991.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024