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MC1R c.487C>G ;(p.R163G)
Variant ID: 16-89986153-C-G
NM_002386.3(
MC1R
):c.487C>G;(p.R163G)
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: rs771897011
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: rs771897011
PubMed Link:
34326492
Variant Present in the following documents:
NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page
Distinct molecular profile of diffuse cerebellar gliomas.
Acta Neuropathologica
Nomura, Masashi M; Mukasa, Akitake A; Nagae, Genta G; Yamamoto, Shogo S; Tatsuno, Kenji K; Ueda, Hiroki H; Fukuda, Shiro S; Umeda, Takayoshi T; Suzuki, Tomonari T; Otani, Ryohei R; Kobayashi, Keiichi K; Maruyama, Takashi T; Tanaka, Shota S; Takayanagi, Shunsaku S; Nejo, Takahide T; Takahashi, Satoshi S; Ichimura, Koichi K; Nakamura, Taishi T; Muragaki, Yoshihiro Y; Narita, Yoshitaka Y; Nagane, Motoo M; Ueki, Keisuke K; Nishikawa, Ryo R; Shibahara, Junji J; Aburatani, Hiroyuki H; Saito, Nobuhito N
Publication Date: 2017-12
Variant appearance in text: MC1R: R163G
PubMed Link:
28852847
Variant Present in the following documents:
401_2017_1771_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page
MC1R diversity in Northern Island Melanesia has not been constrained by strong purifying selection and cannot explain pigmentation phenotype variation in the region.
Bmc Genetics
Norton, Heather L HL; Werren, Elizabeth E; Friedlaender, Jonathan J
Publication Date: 2015-10-19
Variant appearance in text: MC1R: R163G
PubMed Link:
26482799
Variant Present in the following documents:
Main text
12863_2015_Article_277.pdf
View BVdb publication page