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Variant : CV384364 (GRCh37/hg19 22q11.21(chr22:18916842-20312661)x3) Homo sapiens

Symbol: CV384364
Name: GRCh37/hg19 22q11.21(chr22:18916842-20312661)x3
Condition: See cases [RCV000446449]
Clinical Significance: pathogenic
Last Evaluated:
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 gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372218,916,842 - 20,312,661CLINVAR
Cytogenetic Map2222q11.21CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12851172
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-07-28
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.