Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV437637 (GRCh37/hg19 22q11.21(chr22:18916828-20312661)x1) Homo sapiens

Symbol: CV437637
Name: GRCh37/hg19 22q11.21(chr22:18916828-20312661)x1
Condition: See cases [RCV000510556]
Clinical Significance: pathogenic
Last Evaluated: 09/30/2014
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)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372218,916,828 - 20,312,661CLINVAR
Cytogenetic Map2222q11.21CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13443535
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-07-21
Status: ACTIVE



NHLBI Logo

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