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Variant : CV85942 (NM_004803.3(SLC22A14):c.1661C>T (p.Ser554Phe)) Homo sapiens

Symbol: CV85942
Name: NM_004803.3(SLC22A14):c.1661C>T (p.Ser554Phe)
Condition: Malignant melanoma [RCV000066026]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: SLC22A14  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NM_004803.3:c.1661C>T
NC_000003.12:g.38316452C>T
NC_000003.11:g.38357943C>T
NP_004794.2:p.Ser554Phe
NC_000003.10:g.38332947C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38338,316,452 - 38,316,452CLINVAR
GRCh37338,357,943 - 38,357,943CLINVAR
Build 36338,332,947 - 38,332,947CLINVAR
Cytogenetic Map33p22.2CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8630787
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.