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Variant : CV90367 (NM_001004712.1(OR4K14):c.600G>A (p.Met200Ile)) Homo sapiens

Symbol: CV90367
Name: NM_001004712.1(OR4K14):c.600G>A (p.Met200Ile)
Condition: Malignant melanoma [RCV000070465]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: OR4K14  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NM_001004712.1:c.600G>A
NC_000014.9:g.20014594C>T
NC_000014.8:g.20482753C>T
NP_001004712.1:p.Met200Ile
NC_000014.7:g.19552593C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381420,014,594 - 20,014,594CLINVAR
GRCh371420,482,753 - 20,482,753CLINVAR
Build 361419,552,593 - 19,552,593CLINVAR
Cytogenetic Map1414q11.2CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8635145
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.