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MC1R c.617T>C ;(p.L206P)
Variant ID: 16-89986283-T-C
NM_002386.3(
MC1R
):c.617T>C;(p.L206P)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T
Publication Date: 2021-12
Variant appearance in text: rs377499038
PubMed Link:
34326492
Variant Present in the following documents:
NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page
Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T
Publication Date: 2021-12
Variant appearance in text: rs377499038
PubMed Link:
34326492
Variant Present in the following documents:
NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page
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: rs377499038
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: L206P; rs377499038
PubMed Link:
25794181
Variant Present in the following documents:
Main text
pone.0121812.pdf
View BVdb publication page