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Variant : CV155867 (GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1) Homo sapiens

Symbol: CV155867
Name: GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1
Condition: See cases [RCV000135439]
Clinical Significance: pathogenic
Last Evaluated: 07/30/2009
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CFAP61   CFAP61-AS1   CRNKL1   DTD1   DTD1-AS1   DZANK1   INSM1   KAT14   KIZ   KIZ-AS1   LINC00237   LINC00652   LINC00653   LINC00851   MGME1   MIR3192   NAA20   NKX2-4   OVOL2   PET117   POLR3F   RALGAPA2   RBBP9   RIN2   SCP2D1   SCP2D1-AS1   SEC23B   SLC24A3   SLC24A3-AS1   SMIM26   SNORD17   SNX5   XRN2   ZNF133   ZNF133-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_17772771)_(21426789_?)del
NC_000020.10:g.(?_17753416)_(21407427_?)del
NC_000020.9:g.(?_17701416)_(21355427_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382017,772,771 - 21,426,789CLINVAR
GRCh372017,753,416 - 21,407,427CLINVAR
Build 362017,701,416 - 21,355,427CLINVAR
Cytogenetic Map2020p12.1-11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9483012
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.