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Variant : CV160600 (GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1) Homo sapiens

Symbol: CV160600
Name: GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1
Condition: See cases [RCV000139646]
Clinical Significance: pathogenic
Last Evaluated: 06/18/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AGPS   ATF2   ATP5MC3   CDCA7   CHN1   CHRNA1   CIR1   CYBRD1   DLX1   DLX2   DLX2-DT   DYNC1I2   EVX2   GPR155   HAGLR   HAGLROS   HAT1   HNRNPA3   HOXD-AS2   HOXD1   HOXD10   HOXD11   HOXD12   HOXD13   HOXD3   HOXD4   HOXD8   HOXD9   ITGA6   ITGA6-AS1   LINC01116   LINC01117   LINC01305   LINC01960   LNPK   MAP3K20   MAP3K20-AS1   METAP1D   MIR10B   MIR1246   MIR3128   MIR4444-1   MIR6512   MIR7704   MIR933   MTX2   NFE2L2   OLA1   PDE11A   PDE11A-AS1   PDK1   RAPGEF4   RAPGEF4-AS1   SCRN3   SLC25A12   SP3   SP9   TTC30A   TTC30B   WIPF1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_171513047)_(177854080_?)del
NC_000002.11:g.(?_172369557)_(178718807_?)del
NC_000002.10:g.(?_172077803)_(178427053_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382171,513,047 - 177,854,080CLINVAR
GRCh372172,369,557 - 178,718,807CLINVAR
Build 362172,077,803 - 178,427,053CLINVAR
Cytogenetic Map22q31.1-31.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9487177
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.