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Variant : CV80467 (NM_022128.2(RBKS):c.160A>G (p.Lys54Glu)) Homo sapiens

Symbol: CV80467
Name: NM_022128.2(RBKS):c.160A>G (p.Lys54Glu)
Condition: Malignant melanoma [RCV000060544]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: RBKS  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: missense variant|5 prime utr variant
Evidence: literature only|not provided
HGVS Name(s): NC_000002.12:g.27858501T>C
NC_000002.11:g.28081368T>C
NP_071411.1:p.Lys54Glu
NM_022128.2:c.160A>G
NM_022128.1:c.160A>G
NC_000002.10:g.27934872T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38227,858,501 - 27,858,501CLINVAR
GRCh37228,081,368 - 28,081,368CLINVAR
Build 36227,934,872 - 27,934,872CLINVAR
Cytogenetic Map22p23.2CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8625344
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.