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

Variant : CV435920 (GRCh37/hg19 22q11.23(chr22:23690387-24666092)x1) Homo sapiens

Symbol: CV435920
Name: GRCh37/hg19 22q11.23(chr22:23690387-24666092)x1
Condition: See cases [RCV000511065]
Clinical Significance: pathogenic
Last Evaluated: 02/01/2016
Review Status: no assertion criteria provided
Related Genes: C22orf15   CABIN1   CHCHD10   DDT   DDTL   DERL3   DRICH1   GGT5   GSTT1   GSTT2   GSTT2B   IGLL1   MIF   MMP11   RGL4   SLC2A11   SMARCB1   SUSD2   VPREB3   ZNF70  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372223,690,387 - 24,666,092CLINVAR
Cytogenetic Map2222q11.23CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13444041
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


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