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Variant : CV80822 (NM_001128174.1(UGT8):c.564G>A (p.Met188Ile)) Homo sapiens

Symbol: CV80822
Name: NM_001128174.1(UGT8):c.564G>A (p.Met188Ile)
Condition: Malignant melanoma [RCV000060899]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: UGT8  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NM_001128174.1:c.564G>A
NM_003360.3:c.564G>A
NC_000004.12:g.114623444G>A
NC_000004.11:g.115544600G>A
NP_001121646.1:p.Met188Ile
NP_003351.2:p.Met188Ile
NC_000004.10:g.115764049G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh384114,623,444 - 114,623,444CLINVAR
GRCh374115,544,600 - 115,544,600CLINVAR
Build 364115,764,049 - 115,764,049CLINVAR
Cytogenetic Map44q26CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8625698
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.