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MC1R c.889A>G ;(p.I297V)
Variant ID: 16-89986555-A-G
NM_002386.3(
MC1R
):c.889A>G;(p.I297V)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic variation in human drug-related genes.
Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22
Variant appearance in text: rs373467427
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.
Plos One
Hepp, Diego D; Gonçalves, Gislene Lopes GL; de Freitas, Thales Renato Ochotorena TR
Publication Date: 2015
Variant appearance in text: MC1R: I297V
PubMed Link:
25794181
Variant Present in the following documents:
Main text
pone.0121812.pdf
View BVdb publication page