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GRCh38/hg38 1p36.11-35.3(chr1:27429343-27699564)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 2012
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:
RCV000139133.6

Allele description [Variation Report for GRCh38/hg38 1p36.11-35.3(chr1:27429343-27699564)x1]

GRCh38/hg38 1p36.11-35.3(chr1:27429343-27699564)x1

Genes:
  • AHDC1:AT-hook DNA binding motif containing 1 [Gene - OMIM - HGNC]
  • LOC129929879:ATAC-STARR-seq lymphoblastoid active region 550 [Gene]
  • LOC129929881:ATAC-STARR-seq lymphoblastoid active region 551 [Gene]
  • LOC129929882:ATAC-STARR-seq lymphoblastoid active region 552 [Gene]
  • LOC129929885:ATAC-STARR-seq lymphoblastoid active region 554 [Gene]
  • LOC129929888:ATAC-STARR-seq lymphoblastoid active region 556 [Gene]
  • LOC129929891:ATAC-STARR-seq lymphoblastoid active region 557 [Gene]
  • LOC129929892:ATAC-STARR-seq lymphoblastoid active region 559 [Gene]
  • LOC129929896:ATAC-STARR-seq lymphoblastoid active region 560 [Gene]
  • LOC129929897:ATAC-STARR-seq lymphoblastoid active region 563 [Gene]
  • LOC129929899:ATAC-STARR-seq lymphoblastoid active region 564 [Gene]
  • LOC129929900:ATAC-STARR-seq lymphoblastoid active region 565 [Gene]
  • LOC129929902:ATAC-STARR-seq lymphoblastoid active region 567 [Gene]
  • LOC129929903:ATAC-STARR-seq lymphoblastoid active region 568 [Gene]
  • LOC129929880:ATAC-STARR-seq lymphoblastoid silent region 516 [Gene]
  • LOC129929883:ATAC-STARR-seq lymphoblastoid silent region 517 [Gene]
  • LOC129929884:ATAC-STARR-seq lymphoblastoid silent region 518 [Gene]
  • LOC129929886:ATAC-STARR-seq lymphoblastoid silent region 519 [Gene]
  • LOC129929887:ATAC-STARR-seq lymphoblastoid silent region 520 [Gene]
  • LOC129929889:ATAC-STARR-seq lymphoblastoid silent region 521 [Gene]
  • LOC129929890:ATAC-STARR-seq lymphoblastoid silent region 522 [Gene]
  • LOC129929893:ATAC-STARR-seq lymphoblastoid silent region 523 [Gene]
  • LOC129929894:ATAC-STARR-seq lymphoblastoid silent region 524 [Gene]
  • LOC129929895:ATAC-STARR-seq lymphoblastoid silent region 525 [Gene]
  • LOC129929898:ATAC-STARR-seq lymphoblastoid silent region 526 [Gene]
  • LOC129929901:ATAC-STARR-seq lymphoblastoid silent region 527 [Gene]
  • FGR:FGR proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • LOC120893124:Sharpr-MPRA regulatory region 12291 [Gene]
  • LOC121725006:Sharpr-MPRA regulatory region 2074 [Gene]
  • LOC122056813:Sharpr-MPRA regulatory region 6936 [Gene]
  • WASF2:WASP family member 2 [Gene - OMIM - HGNC]
  • IFI6:interferon alpha inducible protein 6 [Gene - OMIM - HGNC]
  • LINC02574:long intergenic non-protein coding RNA 2574 [Gene - HGNC]
  • LOC105376892:uncharacterized LOC105376892 [Gene]
Variant type:
copy number loss
Cytogenetic location:
1p36.11-35.3
Genomic location:
Preferred name:
GRCh38/hg38 1p36.11-35.3(chr1:27429343-27699564)x1
HGVS:
  • NC_000001.11:g.(?_27429343)_(27699564_?)del
  • NC_000001.10:g.(?_27755852)_(28026075_?)del
  • NC_000001.9:g.(?_27628439)_(27898662_?)del
Links:
dbVar: nssv1602710; dbVar: nsv916509
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
SCV000179625ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(May 3, 2012) 		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, SCV000179625.4

#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