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Variant : CV26190 (CHM, 1-BP DEL, GGA146GA, FS159TER) Homo sapiens

Symbol: CV26190
Name: CHM, 1-BP DEL, GGA146GA, FS159TER
Condition: Choroideremia [RCV000011901]
Clinical Significance: pathogenic
Last Evaluated: 11/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CHM  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Nucleotide Change: 1-bp del, gga146ga, fs159ter
Evidence: literature only
Position
Human AssemblyChrPosition (strand)Source
Cytogenetic MapXXq21.2CLINVAR
Age Of Onset: adolescence / young adulthood|adolescent|childhood
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8562212
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-06
Status: ACTIVE



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