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Variant : CV556204 (GRCh37/hg19 22q11.21(chr22:18916842-20310938)x1) Homo sapiens

Symbol: CV556204
Name: GRCh37/hg19 22q11.21(chr22:18916842-20310938)x1
Condition: not provided [RCV000684495]
Clinical Significance: pathogenic
Last Evaluated: 05/16/2018
Review Status: no assertion criteria provided
Related Genes: ARVCF   C22orf39   CDC45   CLDN5   CLTCL1   COMT   DGCR2   DGCR6L   DGCR8   ESS2   GNB1L   GP1BB   GSC2   HIRA   MRPL40   PRODH   RANBP1   RTL10   RTN4R   SEPTIN5   SLC25A1   TANGO2   TBX1   TRMT2A   TSSK2   TXNRD2   UFD1   ZDHHC8  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372218,916,842 - 20,310,938CLINVAR
Cytogenetic Map2222q11.21CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 13798731
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-07-21
Status: ACTIVE


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