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Variant : CV89134 (NM_001005195.1(OR8B12):c.139C>T (p.Leu47=)) Homo sapiens

Symbol: CV89134
Name: NM_001005195.1(OR8B12):c.139C>T (p.Leu47=)
Condition: Malignant melanoma [RCV000069231]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: OR8B12  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: literature only|not provided
HGVS Name(s): NM_001005195.1:c.139C>T
NC_000011.10:g.124543516G>A
NC_000011.9:g.124413412G>A
NP_001005195.1:p.Leu47=
NC_000011.8:g.123918622G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3811124,543,516 - 124,543,516CLINVAR
GRCh3711124,413,412 - 124,413,412CLINVAR
Build 3611123,918,622 - 123,918,622CLINVAR
Cytogenetic Map1111q24.2CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8633918
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.