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Variant : CV269993 (NM_000390.4(CHM):c.715C>T (p.Arg239Ter)) Homo sapiens

Symbol: CV269993
Name: NM_000390.4(CHM):c.715C>T (p.Arg239Ter)
Condition: Choroideremia [RCV000302207]|Choroideremia [RCV000763635]
Clinical Significance: pathogenic
Last Evaluated: 01/03/2019
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): LRG_699:g.93598C>T
NG_009874.2:g.93598C>T
NC_000023.11:g.85958965G>A
NC_000023.10:g.85213970G>A
NM_000390.2:c.715C>T
NP_000381.1:p.Arg239Ter
LRG_699t1:c.715C>T
NM_000390.4:c.715C>T
NM_001362518.2:c.271C>T
NM_001362519.1:c.271C>T
NP_001349446.1:p.Arg91Ter
NP_001349447.1:p.Arg91Ter
NP_001349448.1:p.Arg91Ter
NP_001307888.1:p.Arg91Ter
NM_001320959.1:c.271C>T
NM_001362517.1:c.271C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,958,965 - 85,958,965CLINVAR
GRCh37X85,213,970 - 85,213,970CLINVAR
Cytogenetic MapXXq21.2CLINVAR
Age Of Onset: adolescent
Prevalence: 1-9 / 100 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11579376
Created: 2017-01-11
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.