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MC1R c.389C>T ;(p.S130F)
Variant ID: 16-89986055-C-T
NM_002386.3(
MC1R
):c.389C>T;(p.S130F)
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:
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: S130F; rs377025135
PubMed Link:
25794181
Variant Present in the following documents:
View BVdb publication page
A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.
Biomed Research International
Hu, Hui-Han HH; Benfodda, Mériem M; Dumaz, Nicolas N; Gazal, Steven S; Descamps, Vincent V; Bourillon, Agnès A; Basset-Seguin, Nicole N; Riffault, Angélique A; Ezzedine, Khaled K; Bagot, Martine M; Bensussan, Armand A; Saiag, Philippe P; Grandchamp, Bernard B; Soufir, Nadem N
Publication Date: 2014
Variant appearance in text: MC1R: 389C>T; S130F
PubMed Link:
24982914
Variant Present in the following documents:
Main text
BMRI2014-925716.pdf
925716.f1.pdf
View BVdb publication page