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GRCh38/hg38 20q13.13-13.2(chr20:50781990-52792847)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 21, 2011
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:
RCV000137265.5

Allele description [Variation Report for GRCh38/hg38 20q13.13-13.2(chr20:50781990-52792847)x1]

GRCh38/hg38 20q13.13-13.2(chr20:50781990-52792847)x1

Genes:
  • ADNP-AS1:ADNP antisense RNA 1 [Gene - HGNC]
  • LOC130066147:ATAC-STARR-seq lymphoblastoid active region 18095 [Gene]
  • LOC130066148:ATAC-STARR-seq lymphoblastoid active region 18096 [Gene]
  • LOC130066149:ATAC-STARR-seq lymphoblastoid active region 18097 [Gene]
  • LOC130066150:ATAC-STARR-seq lymphoblastoid active region 18098 [Gene]
  • LOC130066151:ATAC-STARR-seq lymphoblastoid active region 18099 [Gene]
  • LOC130066154:ATAC-STARR-seq lymphoblastoid active region 18100 [Gene]
  • LOC130066155:ATAC-STARR-seq lymphoblastoid active region 18101 [Gene]
  • LOC130066156:ATAC-STARR-seq lymphoblastoid active region 18102 [Gene]
  • LOC130066157:ATAC-STARR-seq lymphoblastoid active region 18103 [Gene]
  • LOC130066158:ATAC-STARR-seq lymphoblastoid active region 18104 [Gene]
  • LOC130066159:ATAC-STARR-seq lymphoblastoid active region 18105 [Gene]
  • LOC130066160:ATAC-STARR-seq lymphoblastoid active region 18106 [Gene]
  • LOC130066165:ATAC-STARR-seq lymphoblastoid active region 18107 [Gene]
  • LOC130066166:ATAC-STARR-seq lymphoblastoid active region 18108 [Gene]
  • LOC130066170:ATAC-STARR-seq lymphoblastoid active region 18109 [Gene]
  • LOC130066171:ATAC-STARR-seq lymphoblastoid active region 18110 [Gene]
  • LOC130066172:ATAC-STARR-seq lymphoblastoid active region 18111 [Gene]
  • LOC130066173:ATAC-STARR-seq lymphoblastoid active region 18112 [Gene]
  • LOC130066174:ATAC-STARR-seq lymphoblastoid active region 18113 [Gene]
  • LOC130066175:ATAC-STARR-seq lymphoblastoid active region 18114 [Gene]
  • LOC130066178:ATAC-STARR-seq lymphoblastoid active region 18116 [Gene]
  • LOC130066180:ATAC-STARR-seq lymphoblastoid active region 18117 [Gene]
  • LOC130066182:ATAC-STARR-seq lymphoblastoid active region 18118 [Gene]
  • LOC130066146:ATAC-STARR-seq lymphoblastoid silent region 13026 [Gene]
  • LOC130066152:ATAC-STARR-seq lymphoblastoid silent region 13027 [Gene]
  • LOC130066153:ATAC-STARR-seq lymphoblastoid silent region 13028 [Gene]
  • LOC130066161:ATAC-STARR-seq lymphoblastoid silent region 13031 [Gene]
  • LOC130066162:ATAC-STARR-seq lymphoblastoid silent region 13032 [Gene]
  • LOC130066163:ATAC-STARR-seq lymphoblastoid silent region 13033 [Gene]
  • LOC130066164:ATAC-STARR-seq lymphoblastoid silent region 13036 [Gene]
  • LOC130066167:ATAC-STARR-seq lymphoblastoid silent region 13038 [Gene]
  • LOC130066168:ATAC-STARR-seq lymphoblastoid silent region 13039 [Gene]
  • LOC130066169:ATAC-STARR-seq lymphoblastoid silent region 13040 [Gene]
  • LOC130066176:ATAC-STARR-seq lymphoblastoid silent region 13041 [Gene]
  • LOC130066177:ATAC-STARR-seq lymphoblastoid silent region 13042 [Gene]
  • LOC130066179:ATAC-STARR-seq lymphoblastoid silent region 13043 [Gene]
  • LOC130066181:ATAC-STARR-seq lymphoblastoid silent region 13045 [Gene]
  • ATP9A:ATPase phospholipid transporting 9A (putative) [Gene - OMIM - HGNC]
  • LOC126863049:BRD4-independent group 4 enhancer GRCh37_chr20:49874837-49876036 [Gene]
  • LOC126863054:BRD4-independent group 4 enhancer GRCh37_chr20:50247413-50248612 [Gene]
  • LOC126863053:CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:50224727-50225926 [Gene]
  • LOC126863050:MED14-independent group 3 enhancer GRCh37_chr20:50051304-50052503 [Gene]
  • LOC126863051:MED14-independent group 3 enhancer GRCh37_chr20:50103914-50105113 [Gene]
  • LOC121627911:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:50063011-50064210 [Gene]
  • LOC126863052:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:50149441-50150640 [Gene]
  • LOC125387299:Sharpr-MPRA regulatory region 11561 [Gene]
  • LOC121627910:Sharpr-MPRA regulatory region 14118 [Gene]
  • LOC125387300:Sharpr-MPRA regulatory region 2244 [Gene]
  • LOC125387301:Sharpr-MPRA regulatory region 2265 [Gene]
  • LOC125387302:Sharpr-MPRA regulatory region 2507 [Gene]
  • LOC112694721:Sharpr-MPRA regulatory region 8647 [Gene]
  • LOC121853013:Sharpr-MPRA regulatory region 9373 [Gene]
  • LOC125387298:Sharpr-MPRA regulatory region 9422 [Gene]
  • ZFP64:ZFP64 zinc finger protein [Gene - OMIM - HGNC]
  • ADNP:activity dependent neuroprotector homeobox [Gene - OMIM - HGNC]
  • BCAS4:breast carcinoma amplified sequence 4 [Gene - OMIM - HGNC]
  • DPM1:dolichyl-phosphate mannosyltransferase subunit 1, catalytic [Gene - OMIM - HGNC]
  • LINC01429:long intergenic non-protein coding RNA 1429 [Gene - HGNC]
  • LINC01524:long intergenic non-protein coding RNA 1524 [Gene - HGNC]
  • MIR3194:microRNA 3194 [Gene - HGNC]
  • MOCS3:molybdenum cofactor synthesis 3 [Gene - OMIM - HGNC]
  • NFATC2:nuclear factor of activated T cells 2 [Gene - OMIM - HGNC]
  • KCNG1:potassium voltage-gated channel modifier subfamily G member 1 [Gene - OMIM - HGNC]
  • SALL4:spalt like transcription factor 4 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
20q13.13-13.2
Genomic location:
Preferred name:
GRCh38/hg38 20q13.13-13.2(chr20:50781990-52792847)x1
HGVS:
  • NC_000020.11:g.(?_50781990)_(52792847_?)del
  • NC_000020.10:g.(?_49398527)_(51409386_?)del
  • NC_000020.9:g.(?_48831934)_(50842793_?)del
Links:
dbVar: nssv1415053; dbVar: nsv817187
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
SCV000177481ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Mar 21, 2011) 		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 1, SCV000177481.4

#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