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GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 28, 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:
RCV000133793.4

Allele description

GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3

Genes:
  • LOC130063793:ATAC-STARR-seq lymphoblastoid active region 14172 [Gene]
  • LOC130063795:ATAC-STARR-seq lymphoblastoid active region 14173 [Gene]
  • LOC130063796:ATAC-STARR-seq lymphoblastoid active region 14174 [Gene]
  • LOC130063797:ATAC-STARR-seq lymphoblastoid active region 14175 [Gene]
  • LOC130063798:ATAC-STARR-seq lymphoblastoid active region 14176 [Gene]
  • LOC130063799:ATAC-STARR-seq lymphoblastoid active region 14177 [Gene]
  • LOC130063800:ATAC-STARR-seq lymphoblastoid active region 14178 [Gene]
  • LOC130063804:ATAC-STARR-seq lymphoblastoid active region 14179 [Gene]
  • LOC130063805:ATAC-STARR-seq lymphoblastoid active region 14180 [Gene]
  • LOC130063790:ATAC-STARR-seq lymphoblastoid silent region 10255 [Gene]
  • LOC130063791:ATAC-STARR-seq lymphoblastoid silent region 10256 [Gene]
  • LOC130063792:ATAC-STARR-seq lymphoblastoid silent region 10257 [Gene]
  • LOC130063794:ATAC-STARR-seq lymphoblastoid silent region 10260 [Gene]
  • LOC130063801:ATAC-STARR-seq lymphoblastoid silent region 10261 [Gene]
  • LOC130063802:ATAC-STARR-seq lymphoblastoid silent region 10262 [Gene]
  • LOC130063803:ATAC-STARR-seq lymphoblastoid silent region 10263 [Gene]
  • LOC130063806:ATAC-STARR-seq lymphoblastoid silent region 10264 [Gene]
  • CLEC17A:C-type lectin domain containing 17A [Gene - OMIM - HGNC]
  • LOC116276506:CRISPRi-validated cis-regulatory element chr19.2424 [Gene]
  • DNAJB1:DnaJ heat shock protein family (Hsp40) member B1 [Gene - OMIM - HGNC]
  • GIPC1:GIPC PDZ domain containing family member 1 [Gene - OMIM - HGNC]
  • ILVBL-AS1:ILVBL antisense RNA 1 [Gene - HGNC]
  • LOC126862870:MED14-independent group 3 enhancer GRCh37_chr19:14910875-14912074 [Gene]
  • NDUFB7:NADH:ubiquinone oxidoreductase subunit B7 [Gene - OMIM - HGNC]
  • LOC126862869:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:14841378-14842577 [Gene]
  • LOC113939968:Sharpr-MPRA regulatory region 13248 [Gene]
  • ADGRE2:adhesion G protein-coupled receptor E2 [Gene - OMIM - HGNC]
  • ADGRE3:adhesion G protein-coupled receptor E3 [Gene - OMIM - HGNC]
  • CASP14:caspase 14 [Gene - OMIM - HGNC]
  • ILVBL:ilvB acetolactate synthase like [Gene - OMIM - HGNC]
  • MIR639:microRNA 639 [Gene - HGNC]
  • OR1I1:olfactory receptor family 1 subfamily I member 1 [Gene - HGNC]
  • OR7A10:olfactory receptor family 7 subfamily A member 10 [Gene - HGNC]
  • OR7A17:olfactory receptor family 7 subfamily A member 17 [Gene - HGNC]
  • OR7A5:olfactory receptor family 7 subfamily A member 5 [Gene - HGNC]
  • OR7C1:olfactory receptor family 7 subfamily C member 1 [Gene - HGNC]
  • OR7C2:olfactory receptor family 7 subfamily C member 2 [Gene - HGNC]
  • SNORA104:small nucleolar RNA, H/ACA box 104 [Gene - HGNC]
  • SLC1A6:solute carrier family 1 member 6 [Gene - OMIM - HGNC]
  • SYDE1:synapse defective Rho GTPase homolog 1 [Gene - OMIM - HGNC]
  • TEKTL1:tektin like 1 [Gene - HGNC]
  • TECR:trans-2,3-enoyl-CoA reductase [Gene - OMIM - HGNC]
  • ZNF333:zinc finger protein 333 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19p13.12
Genomic location:
Preferred name:
GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3
HGVS:
  • NC_000019.10:g.(?_14477761)_(15133653_?)dup
  • NC_000019.8:g.(?_14449573)_(15105464_?)dup
  • NC_000019.9:g.(?_14588573)_(15244464_?)dup
Links:
dbVar: nssv576652; dbVar: nsv491861
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
SCV000173203ISCA site 4

See additional submitters

no assertion criteria provided
Uncertain significance
(Feb 28, 2010) 		not providedclinical 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 4, SCV000173203.3

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

Last Updated: Oct 14, 2023