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Variant : CV804322 (GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1) Homo sapiens

Symbol: CV804322
Name: GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1
Condition: not provided [RCV001007080]
Clinical Significance: pathogenic
Last Evaluated: 08/21/2018
Review Status: no assertion criteria provided
Related Genes: ANKEF1   BANF2   BFSP1   BTBD3   CFAP61   CRNKL1   DSTN   DTD1   DZANK1   ESF1   FLRT3   INSM1   ISM1   JAG1   KAT14   KIF16B   KIZ   LAMP5   MACROD2   MGME1   MKKS   NAA20   NDUFAF5   NKX2-2   NKX2-4   OTOR   OVOL2   PAK5   PAX1   PCSK2   PET117   PLCB1   PLCB4   POLR3F   RALGAPA2   RBBP9   RIN2   RRBP1   SCP2D1   SCP2D1-AS1   SEC23B   SEL1L2   SLC24A3   SLX4IP   SNAP25   SNRPB2   SNX5   SPTLC3   TASP1   XRN2   ZNF133  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37208,571,696 - 22,088,650CLINVAR
Cytogenetic Map2020p12.3-11.22CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 25316827
Created: 2020-04-07
Species: Homo sapiens
Last Modified: 2020-06-23
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.