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Variant : CV383686 (GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3) Homo sapiens

Symbol: CV383686
Name: GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3
Condition: See cases [RCV000446787]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ADA2   ARVCF   ATP6V1E1   BCL2L13   BID   C22orf39   CCT8L2   CDC45   CECR2   CECR3   CLDN5   CLTCL1   COMT   DGCR2   DGCR6   DGCR6L   DGCR8   ESS2   GAB4   GNB1L   GP1BB   GSC2   HDHD5   HIRA   IL17RA   MICAL3   MRPL40   PEX26   PRODH   RANBP1   RTL10   RTN4R   SEPTIN5   SLC25A1   SLC25A18   TANGO2   TBX1   TMEM121B   TRMT2A   TSSK2   TUBA8   TXNRD2   UFD1   USP18   XKR3   ZDHHC8  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372216,888,899 - 20,311,858CLINVAR
Cytogenetic Map2222q11.1-11.21CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 12851510
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


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