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Variant : CV265176 (NM_000390.4(CHM):c.757C>T (p.Arg253Ter)) Homo sapiens

Symbol: CV265176
Name: NM_000390.4(CHM):c.757C>T (p.Arg253Ter)
Condition: Retinitis pigmentosa [RCV000787565]|not provided [RCV000265578]
Clinical Significance: pathogenic
Last Evaluated: 09/27/2018
Review Status: 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|research
HGVS Name(s): LRG_699:g.93640C>T
NG_009874.2:g.93640C>T
NC_000023.11:g.85958923G>A
NC_000023.10:g.85213928G>A
NP_000381.1:p.Arg253Ter
LRG_699t1:c.757C>T
NM_001362517.1:c.313C>T
NM_001362518.2:c.313C>T
NM_001362519.1:c.313C>T
NM_000390.4:c.757C>T
NM_000390.2:c.757C>T
NP_001307888.1:p.Arg105Ter
NP_001349446.1:p.Arg105Ter
NM_001320959.1:c.313C>T
NP_001349447.1:p.Arg105Ter
NP_001349448.1:p.Arg105Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,958,923 - 85,958,923CLINVAR
GRCh37X85,213,928 - 85,213,928CLINVAR
Cytogenetic MapXXq21.2CLINVAR
Trait Synonyms: Retinotapetal degeneration; Tapetoretinal degeneration



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11632529
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.