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Variant : CV48408 (NM_000390.4(CHM):c.1520A>G (p.His507Arg)) Homo sapiens

Symbol: CV48408
Name: NM_000390.4(CHM):c.1520A>G (p.His507Arg)
Condition: Choroideremia [RCV000033030]
Clinical Significance: pathogenic
Last Evaluated: 11/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only
HGVS Name(s): P24386:p.His507Arg
NM_001320959.1:c.1076A>G
NM_001362517.1:c.1076A>G
NM_001362518.2:c.1076A>G
NM_001362519.1:c.1076A>G
NP_001307888.1:p.His359Arg
NP_001349446.1:p.His359Arg
NP_001349447.1:p.His359Arg
NP_001349448.1:p.His359Arg
NM_000390.4:c.1520A>G
NC_000023.11:g.85879054T>C
NC_000023.10:g.85134059T>C
NP_000381.1:p.His507Arg
NG_009874.2:g.173509A>G
LRG_699:g.173509A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,879,054 - 85,879,054CLINVAR
GRCh37X85,134,059 - 85,134,059CLINVAR
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: 8570653
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
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.