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Variant : CV90289 (NM_199289.2(NEK5):c.1387G>A (p.Glu463Lys)) Homo sapiens

Symbol: CV90289
Name: NM_199289.2(NEK5):c.1387G>A (p.Glu463Lys)
Condition: Malignant melanoma [RCV000070387]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: NEK5  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NC_000013.11:g.52087343C>T
NC_000013.10:g.52661479C>T
NP_954983.1:p.Glu463Lys
NC_000013.9:g.51559480C>T
NM_199289.2:c.1387G>A
NM_199289.1:c.1387G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381352,087,343 - 52,087,343CLINVAR
GRCh371352,661,479 - 52,661,479CLINVAR
Build 361351,559,480 - 51,559,480CLINVAR
Cytogenetic Map1313q14.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8635067
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.