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Variant : CV90446 (NM_006939.2(SOS2):c.3491G>A (p.Gly1164Glu)) Homo sapiens

Symbol: CV90446
Name: NM_006939.2(SOS2):c.3491G>A (p.Gly1164Glu)
Condition: Malignant melanoma [RCV000070544]
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
Evidence: literature only|not provided
HGVS Name(s): NC_000014.7:g.49655320C>T
NM_006939.2:c.3491G>A
NC_000014.9:g.50118852C>T
NC_000014.8:g.50585570C>T
NM_001040662.1:c.-27-u2273G>A
NM_024558.2:c.-27-u2273G>A
NP_008870.2:p.Gly1164Glu
Position
Human AssemblyChrPosition (strand)Source
GRCh381450,118,852 - 50,118,852CLINVAR
GRCh371450,585,570 - 50,585,570CLINVAR
Build 361449,655,320 - 49,655,320CLINVAR
Cytogenetic Map1414q21.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8635224
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.