MC1R c.484C>G ;(p.R162G)

Variant ID: 16-89986150-C-G

NM_002386.3(MC1R):c.484C>G;(p.R162G)

This variant was identified in 2 publications

View GRCh38 version.




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: rs553516665
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: rs553516665
PubMed Link: 34326492
Variant Present in the following documents:
  • NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



Next-generation sequence analysis of genes associated with obesity and nonalcoholic fatty liver disease-related cirrhosis in extreme obesity.

Human Heredity
Gerhard, Glenn S GS; Chu, Xin X; Wood, G Craig GC; Gerhard, Genevieve M GM; Benotti, Peter P; Petrick, Anthony T AT; Gabrielsen, Jon J; Strodel, William E WE; Still, Christopher D CD; Argyropoulos, George G
Publication Date: 2013

Variant appearance in text: MC1R: R162G
PubMed Link: 24081230
Variant Present in the following documents:
  • Main text
View BVdb publication page