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Variant : CV82753 (NM_207117.2(SLC25A47):c.170C>T (p.Ser57Leu)) Homo sapiens

Symbol: CV82753
Name: NM_207117.2(SLC25A47):c.170C>T (p.Ser57Leu)
Condition: Malignant melanoma [RCV000062833]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: SLC25A47  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NM_207117.2:c.170C>T
NC_000014.9:g.100327213C>T
NC_000014.8:g.100793550C>T
NP_997000.2:p.Ser57Leu
NC_000014.7:g.99863303C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3814100,327,213 - 100,327,213CLINVAR
GRCh3714100,793,550 - 100,793,550CLINVAR
Build 361499,863,303 - 99,863,303CLINVAR
Cytogenetic Map1414q32.2CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8627609
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.