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MC1R c.788T>C ;(p.L263P)
Variant ID: 16-89986454-T-C
NM_002386.3(
MC1R
):c.788T>C;(p.L263P)
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:
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: rs755331408
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: rs755331408
PubMed Link:
34326492
Variant Present in the following documents:
NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page
Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.
The British Journal Of Dermatology
Puig-Butillé, J A JA; Carrera, C C; Kumar, R R; Garcia-Casado, Z Z; Badenas, C C; Aguilera, P P; Malvehy, J J; Nagore, E E; Puig, S S
Publication Date: 2013-10
Variant appearance in text: MC1R: 788T>C; L263P
PubMed Link:
23647022
Variant Present in the following documents:
Main text
View BVdb publication page