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Variant : CV82319 (NM_152591.2(CCDC63):c.140C>T (p.Ser47Phe)) Homo sapiens

Symbol: CV82319
Name: NM_152591.2(CCDC63):c.140C>T (p.Ser47Phe)
Condition: Malignant melanoma [RCV000062398]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: CCDC63  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: missense|missense variant|intron variant
Evidence: literature only|not provided
HGVS Name(s): NC_000012.10:g.109775722C>T
NC_000012.12:g.110853535C>T
NC_000012.11:g.111291339C>T
NM_152591.2:c.140C>T
NM_152591.1:c.140C>T
NP_689804.1:p.Ser47Phe
Position
Human AssemblyChrPosition (strand)Source
GRCh3812110,853,535 - 110,853,535CLINVAR
GRCh3712111,291,339 - 111,291,339CLINVAR
Build 3612109,775,722 - 109,775,722CLINVAR
Cytogenetic Map1212q24.11CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8627175
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.