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Variant : CV383889 (GRCh37/hg19 22q11.21(chr22:18916842-20716903)x1) Homo sapiens

Symbol: CV383889
Name: GRCh37/hg19 22q11.21(chr22:18916842-20716903)x1
Condition: See cases [RCV000446341]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ARVCF   C22orf39   CDC45   CLDN5   CLTCL1   COMT   DGCR2   DGCR6L   DGCR8   ESS2   FAM230A   GGTLC3   GNB1L   GP1BB   GSC2   HIRA   MRPL40   PRODH   RANBP1   RIMBP3   RTL10   RTN4R   SEPTIN5   SLC25A1   TANGO2   TBX1   TMEM191B   TRMT2A   TSSK2   TXNRD2   UFD1   ZDHHC8  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372218,916,842 - 20,716,903CLINVAR
Cytogenetic Map2222q11.21CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12851066
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-08-04
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.