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

Variant : CV26186 (CHM, IVS13DS, INS T, +2) Homo sapiens

Symbol: CV26186
Name: CHM, IVS13DS, INS T, +2
Condition: Choroideremia, Salla type [RCV000011897]|Choroideremia, salla type [RCV000011897]
Clinical Significance: pathogenic
Last Evaluated: 11/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CHM  
Variant Type: insertion (SO:0000667)
Source: CLINVAR
Nucleotide Change: ivs13ds, ins t, +2
Evidence: literature only
Position
Human AssemblyChrPosition (strand)Source
Cytogenetic MapXXq21.2CLINVAR



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8562208
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



NHLBI Logo

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