Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV90445 (NM_001040662.1(VCPKMT):c.104C>T (p.Ser35Phe)) Homo sapiens

Symbol: CV90445
Name: NM_001040662.1(VCPKMT):c.104C>T (p.Ser35Phe)
Condition: Malignant melanoma [RCV000070543]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: SOS2   VCPKMT  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant|non-coding transcript variant
Evidence: literature only|not provided
HGVS Name(s): NC_000014.7:g.49652917G>A
NM_001040662.1:c.104C>T
NM_024558.2:c.104C>T
NC_000014.9:g.50116449G>A
NC_000014.8:g.50583167G>A
NM_006939.2:c.*1216+d679C>T
NP_001035752.1:p.Ser35Phe
NP_078834.2:p.Ser35Phe
Position
Human AssemblyChrPosition (strand)Source
GRCh381450,116,449 - 50,116,449CLINVAR
GRCh371450,583,167 - 50,583,167CLINVAR
Build 361449,652,917 - 49,652,917CLINVAR
Cytogenetic Map1414q21.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8635223
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2015-08-04
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.