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Variant : CV93053 (NM_173495.2(PTCHD1):c.1879C>T (p.Gln627Ter)) Homo sapiens

Symbol: CV93053
Name: NM_173495.2(PTCHD1):c.1879C>T (p.Gln627Ter)
Condition: Malignant melanoma [RCV000073151]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: PTCHD1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: stop-gain|nonsense
Evidence: literature only|not provided
HGVS Name(s): NM_173495.2:c.1879C>T
NG_021300.1:g.63530C>T
NC_000023.11:g.23393397C>T
NC_000023.10:g.23411514C>T
NP_775766.2:p.Gln627Ter
NC_000023.9:g.23321435C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X23,393,397 - 23,393,397CLINVAR
GRCh37X23,411,514 - 23,411,514CLINVAR
Build 36X23,321,435 - 23,321,435CLINVAR
Cytogenetic MapXXp22.11CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8637827
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2015-08-04
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.