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Variant : CV158814 (GRCh38/hg38 1q32.2-32.3(chr1:208063461-211907812)x1) Homo sapiens

Symbol: CV158814
Name: GRCh38/hg38 1q32.2-32.3(chr1:208063461-211907812)x1
Condition: See cases [RCV000138122]
Clinical Significance: likely benign
Last Evaluated: 04/05/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: C1orf74   CAMK1G   G0S2   HHAT   HSD11B1   IRF6   KCNH1   KCNH1-IT1   LAMB3   LINC00467   LPGAT1   MIR205   MIR205HG   MIR4260   NEK2   PLXNA2   RCOR3   RD3   SERTAD4   SERTAD4-AS1   SLC30A1   SYT14   TRAF3IP3   TRAF5   UTP25  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_208063461)_(211907812_?)del
NC_000001.10:g.(?_208236806)_(212081154_?)del
NC_000001.9:g.(?_206303429)_(210147777_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381208,063,461 - 211,907,812CLINVAR
GRCh371208,236,806 - 212,081,154CLINVAR
Build 361206,303,429 - 210,147,777CLINVAR
Cytogenetic Map11q32.2-32.3CLINVAR




Additional Information

 
RGD Object Information
RGD ID: 9485671
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2016-05-31
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.