OCA2 c.1113C>A ;(p.G371=)

Variant ID: 15-28235725-G-T

NM_000275.2(OCA2):c.1113C>A;(p.G371=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic analyses of Vietnamese patients with oculocutaneous albinism.

Journal Of Clinical Laboratory Analysis
Thuong, Ma Thi Huyen MTH; Anh, Luong Thi Lan LTL; Nhung, Vu Phuong VP; Ngoc, Tran Thi Bich TTB; Lan, Hoang Thu HT; Phuong, Doan Kim DK; Ha, Nguyen Hai NH; Van Hai, Nong N; Ton, Nguyen Dang ND
Publication Date: 2022-09

Variant appearance in text: OCA2: G371=
PubMed Link: 35870188
Variant Present in the following documents:
  • Main text
  • JCLA-36-e24625.pdf
View BVdb publication page



Cancer of Unknown Primary (CUP): genetic evidence for a novel nosological entity? A case report.

Embo Molecular Medicine
Benvenuti, Silvia S; Milan, Melissa M; Geuna, Elena E; Pisacane, Alberto A; Senetta, Rebecca R; Gambardella, Gennaro G; Stella, Giulia M GM; Montemurro, Filippo F; Sapino, Anna A; Boccaccio, Carla C; Comoglio, Paolo M PM
Publication Date: 2020-07-07

Variant appearance in text: OCA2: G371G
PubMed Link: 32511869
Variant Present in the following documents:
  • EMMM-12-e11756-s005.xlsx, sheet 1
View BVdb publication page



A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

American Journal Of Human Genetics
Duffy, David L DL; Montgomery, Grant W GW; Chen, Wei W; Zhao, Zhen Zhen ZZ; Le, Lien L; James, Michael R MR; Hayward, Nicholas K NK; Martin, Nicholas G NG; Sturm, Richard A RA
Publication Date: 2007-02

Variant appearance in text: OCA2: Gly371Gly
PubMed Link: 17236130
Variant Present in the following documents:
  • Main text
View BVdb publication page