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Variant : CV152796 (NM_000390.4(CHM):c.808C>T (p.Arg270Ter)) Homo sapiens

Symbol: CV152796
Name: NM_000390.4(CHM):c.808C>T (p.Arg270Ter)
Condition: Choroideremia [RCV000132595]|not provided [RCV000519231]
Clinical Significance: pathogenic
Last Evaluated: 07/31/2017
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing|literature only|not provided
HGVS Name(s): NC_000023.11:g.85958872G>A
NC_000023.10:g.85213877G>A
NP_000381.1:p.Arg270Ter
NG_009874.2:g.93691C>T
LRG_699t1:c.808C>T
LRG_699:g.93691C>T
NM_001320959.1:c.364C>T
NM_001362517.1:c.364C>T
NM_001362518.2:c.364C>T
NM_001362519.1:c.364C>T
NM_000390.4:c.808C>T
NM_000390.2:c.808C>T
NP_001307888.1:p.Arg122Ter
NP_001349446.1:p.Arg122Ter
NP_001349447.1:p.Arg122Ter
NP_001349448.1:p.Arg122Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,958,872 - 85,958,872CLINVAR
GRCh37X85,213,877 - 85,213,877CLINVAR
Cytogenetic MapXXq21.2CLINVAR
Age Of Onset: adolescence / young adulthood|adolescent|childhood
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9480284
Created: 2014-09-09
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.