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Variant : CV82781 (NM_015289.3(VPS39):c.551C>T (p.Ser184Phe)) Homo sapiens

Symbol: CV82781
Name: NM_015289.3(VPS39):c.551C>T (p.Ser184Phe)
Condition: Malignant melanoma [RCV000062861]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: VPS39  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NC_000015.8:g.40264174G>A
NC_000015.10:g.42184684G>A
NC_000015.9:g.42476882G>A
NP_056104.2:p.Ser184Phe
NM_015289.3:c.551C>T
NM_015289.2:c.551C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381542,184,684 - 42,184,684CLINVAR
GRCh371542,476,882 - 42,476,882CLINVAR
Build 361540,264,174 - 40,264,174CLINVAR
Cytogenetic Map1515q15.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8627637
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.