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Variant : CV157747 (GRCh38/hg38 2p16.1(chr2:55570578-60519844)x1) Homo sapiens

Symbol: CV157747
Name: GRCh38/hg38 2p16.1(chr2:55570578-60519844)x1
Condition: See cases [RCV000137092]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 02/16/2018
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC007743.1   BCL11A   CCDC85A   EFEMP1   FANCL   LINC01122   LINC01793   LINC01795   LINC01813   MIR216A   MIR216B   MIR217   MIR217HG   MIR4432   MIR4432HG   PNPT1   PPP4R3B   VRK2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_55570578)_(60519844_?)del
NC_000002.11:g.(?_55797714)_(60746979_?)del
NC_000002.10:g.(?_55651218)_(60600483_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38255,570,578 - 60,519,844CLINVAR
GRCh37255,797,714 - 60,746,979CLINVAR
Build 36255,651,218 - 60,600,483CLINVAR
Cytogenetic Map22p16.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484651
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.