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Variant : CV85283 (NM_001277372.1(LOC100652824):c.709G>A (p.Glu237Lys)) Homo sapiens

Symbol: CV85283
Name: NM_001277372.1(LOC100652824):c.709G>A (p.Glu237Lys)
Condition: Malignant melanoma [RCV000065365]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: KIAA2012  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NC_000002.12:g.202097458G>A
NC_000002.11:g.202962181G>A
XR_040657.1:c.1250G>A
NM_001277372.1:c.709G>A
NP_001264301.1:p.Glu237Lys
NC_000002.10:g.202670426G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382202,097,458 - 202,097,458CLINVAR
GRCh372202,962,181 - 202,962,181CLINVAR
Build 362202,670,426 - 202,670,426CLINVAR
Cytogenetic Map22q33.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8630136
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.