MC1R c.88C>T ;(p.Q30*)

Variant ID: 16-89985754-C-T

NM_002386.3(MC1R):c.88C>T;(p.Q30*)

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: rs756579024
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: rs756579024
PubMed Link: 34326492
Variant Present in the following documents:
  • NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population.

Pigment Cell & Melanoma Research
Guan, Xiaoxiang X; Niu, Jiangong J; Liu, Zhensheng Z; Wang, Li-E LE; Amos, Christopher I CI; Lee, Jeffrey E JE; Gershenwald, Jeffrey E JE; Grimm, Elizabeth A EA; Wei, Qingyi Q
Publication Date: 2013-05

Variant appearance in text: MC1R: 88C>T
PubMed Link: 23360207
Variant Present in the following documents:
  • Main text
View BVdb publication page