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

Variant : CV514158 (GRCh37/hg19 22q11.23(chr22:23720171-25065576)) Homo sapiens

Symbol: CV514158
Name: GRCh37/hg19 22q11.23(chr22:23720171-25065576)
Condition: Cerebellar ataxia [RCV000626496]
Clinical Significance: uncertain significance
Last Evaluated: 01/01/2017
Review Status: criteria provided, single submitter
Related Genes: ADORA2A   C22orf15   CABIN1   CHCHD10   DDT   DDTL   DERL3   DRICH1   GGT1   GGT5   GSTT1   GSTT2   GSTT2B   GUCD1   IGLL1   LRRC75B   MIF   MMP11   RGL4   SLC2A11   SMARCB1   SNRPD3   SPECC1L   SUSD2   UPB1   VPREB3   ZNF70  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372223,720,171 - 25,065,576CLINVAR
Cytogenetic Map2222q11.23CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13611795
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE


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