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GRCh38/hg38 1q31.3-32.1(chr1:198608514-199646718)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV000053951.5

Allele description [Variation Report for GRCh38/hg38 1q31.3-32.1(chr1:198608514-199646718)x1]

GRCh38/hg38 1q31.3-32.1(chr1:198608514-199646718)x1

Genes:
  • LOC129932172:ATAC-STARR-seq lymphoblastoid active region 2285 [Gene]
  • LOC129932173:ATAC-STARR-seq lymphoblastoid active region 2286 [Gene]
  • LOC129932174:ATAC-STARR-seq lymphoblastoid active region 2287 [Gene]
  • LOC129932175:ATAC-STARR-seq lymphoblastoid active region 2288 [Gene]
  • LOC129932176:ATAC-STARR-seq lymphoblastoid active region 2289 [Gene]
  • LOC129932177:ATAC-STARR-seq lymphoblastoid active region 2290 [Gene]
  • LOC129932178:ATAC-STARR-seq lymphoblastoid active region 2291 [Gene]
  • LOC129932179:ATAC-STARR-seq lymphoblastoid active region 2292 [Gene]
  • LOC129932180:ATAC-STARR-seq lymphoblastoid active region 2293 [Gene]
  • LOC129932171:ATAC-STARR-seq lymphoblastoid silent region 1667 [Gene]
  • LOC126805969:BRD4-independent group 4 enhancer GRCh37_chr1:198776880-198778079 [Gene]
  • LOC126805968:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:198637893-198639092 [Gene]
  • LOC115804237:CRISPRi-validated cis-regulatory element chr1.10450 [Gene]
  • MIR181A1HG:MIR181A1 host gene [Gene - HGNC]
  • LOC126805970:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:199241403-199242602 [Gene]
  • LOC108281163:PTPRC intron CAGE-defined mid-level expression enhancer [Gene]
  • LINC01221:long intergenic non-protein coding RNA 1221 [Gene - HGNC]
  • LINC01222:long intergenic non-protein coding RNA 1222 [Gene - HGNC]
  • LINC02789:long intergenic non-protein coding RNA 2789 [Gene - HGNC]
  • MIR181A1:microRNA 181a-1 [Gene - OMIM - HGNC]
  • MIR181B1:microRNA 181b-1 [Gene - OMIM - HGNC]
  • PTPRC:protein tyrosine phosphatase receptor type C [Gene - OMIM - HGNC]
...more
Variant type:
copy number loss
Cytogenetic location:
1q31.3-32.1
Genomic location:
Preferred name:
GRCh38/hg38 1q31.3-32.1(chr1:198608514-199646718)x1
HGVS:
  • NC_000001.11:g.(?_198608514)_(199646718_?)del
  • NC_000001.10:g.(?_198577644)_(199615846_?)del
  • NC_000001.9:g.(?_196844267)_(197882469_?)del
Links:
dbVar: nssv577240; dbVar: nsv532619
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000081314ISCA site 15

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))
Pathogenic
(Aug 12, 2011)
de novoclinical testing

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

Last Updated: May 7, 2024

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