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Variant : CV26188 (NM_000390.4(CHM):c.1484C>A (p.Ser495Ter)) Homo sapiens

Symbol: CV26188
Name: NM_000390.4(CHM):c.1484C>A (p.Ser495Ter)
Condition: Choroideremia [RCV000011899]
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:0001587)
Source: CLINVAR
Molecular Consequence: stop-gain|nonsense
Evidence: literature only
HGVS Name(s): NM_001320959.1:c.1040C>A
NM_001362517.1:c.1040C>A
NM_001362518.2:c.1040C>A
NM_000390.4:c.1484C>A
NP_001307888.1:p.Ser347Ter
NM_001362519.1:c.1040C>A
NP_001349446.1:p.Ser347Ter
NP_001349447.1:p.Ser347Ter
NP_001349448.1:p.Ser347Ter
NC_000023.11:g.85894214G>T
NC_000023.10:g.85149219G>T
NP_000381.1:p.Ser495Ter
NG_009874.2:g.158349C>A
LRG_699t1:c.1484C>A
LRG_699:g.158349C>A
LRG_699p1:p.Ser495Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,894,214 - 85,894,214CLINVAR
GRCh37X85,149,219 - 85,149,219CLINVAR
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: 8562210
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.