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GRCh38/hg38 19p12-11(chr19:23631687-24322835)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 24, 2014
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:
RCV000141725.5

Allele description [Variation Report for GRCh38/hg38 19p12-11(chr19:23631687-24322835)x3]

GRCh38/hg38 19p12-11(chr19:23631687-24322835)x3

Genes:
  • LOC130064106:ATAC-STARR-seq lymphoblastoid active region 14393 [Gene]
  • LOC130064107:ATAC-STARR-seq lymphoblastoid active region 14394 [Gene]
  • LOC130064108:ATAC-STARR-seq lymphoblastoid active region 14396 [Gene]
  • LOC130064109:ATAC-STARR-seq lymphoblastoid active region 14397 [Gene]
  • LOC130064110:ATAC-STARR-seq lymphoblastoid active region 14398 [Gene]
  • LOC130064111:ATAC-STARR-seq lymphoblastoid active region 14399 [Gene]
  • LOC130064112:ATAC-STARR-seq lymphoblastoid active region 14400 [Gene]
  • LOC125371500:Sharpr-MPRA regulatory region 3900 [Gene]
  • LOC125371499:Sharpr-MPRA regulatory regions 11764 and 11751 [Gene]
  • LINC03085:long intergenic non-protein coding RNA 3085 [Gene - HGNC]
  • RPSA2:ribosomal protein SA 2 [Gene - HGNC]
  • LOC100505851:uncharacterized LOC100505851 [Gene]
  • ZNF254:zinc finger protein 254 [Gene - OMIM - HGNC]
  • ZNF675:zinc finger protein 675 [Gene - OMIM - HGNC]
  • ZNF681:zinc finger protein 681 [Gene - HGNC]
  • ZNF726:zinc finger protein 726 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19p12-11
Genomic location:
Preferred name:
GRCh38/hg38 19p12-11(chr19:23631687-24322835)x3
HGVS:
  • NC_000019.10:g.(?_23631687)_(24322835_?)dup
  • NC_000019.9:g.(?_23814489)_(24505637_?)dup
Links:
dbVar: nssv3396828; dbVar: nsv995272
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
SCV000182694ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Mar 24, 2014) 		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, SCV000182694.4

#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