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Variant : CV83208 (NM_172232.3(ABCA5):c.733G>A (p.Glu245Lys)) Homo sapiens

Symbol: CV83208
Name: NM_172232.3(ABCA5):c.733G>A (p.Glu245Lys)
Condition: Malignant melanoma [RCV000063288]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: ABCA5  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only|not provided
HGVS Name(s): NC_000017.9:g.64814516C>T
NC_000017.11:g.69306780C>T
NC_000017.10:g.67302921C>T
NP_061142.2:p.Glu245Lys
NP_758424.1:p.Glu245Lys
NM_018672.4:c.733G>A
NM_172232.3:c.733G>A
NM_018672.3:c.733G>A
NM_172232.2:c.733G>A
NG_034199.1:g.25403G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381769,306,780 - 69,306,780CLINVAR
GRCh371767,302,921 - 67,302,921CLINVAR
Build 361764,814,516 - 64,814,516CLINVAR
Cytogenetic Map1717q24.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8628064
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.