MYOC c.1456C>T ;(p.L486F)

Variant ID: 1-171605124-G-A

NM_000261.1(MYOC):c.1456C>T;(p.L486F)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Clinical and genetic analysis of Ser341Pro MYOC variant in a Korean family with primary open angle glaucoma.

International Journal Of Ophthalmology
Moon, Sangwoo S; Kim, Namhee N; Lee, Jiwoong J
Publication Date: 2020

Variant appearance in text: MYOC: Leu486Phe
PubMed Link: 33214997
Variant Present in the following documents:
  • Main text
View BVdb publication page



Research progress on human genes involved in the pathogenesis of glaucoma (Review).

Molecular Medicine Reports
Wang, Hong-Wei HW; Sun, Peng P; Chen, Yao Y; Jiang, Li-Ping LP; Wu, Hui-Ping HP; Zhang, Wen W; Gao, Feng F
Publication Date: 2018-07

Variant appearance in text: MYOC: Leu486Phe
PubMed Link: 29845210
Variant Present in the following documents:
  • Main text
  • mmr-18-01-0656.pdf
View BVdb publication page



A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family.

International Journal Of Ophthalmology
Yao, Yi-Hua YH; Wang, Ya-Qin YQ; Fang, Wei-Fang WF; Zhang, Liu L; Yang, Ju-Hua JH; Zhu, Yi-Hua YH
Publication Date: 2018

Variant appearance in text: MYOC: 1456C>T; L486F
PubMed Link: 29600168
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma.

Chinese Medical Journal
Liao, Rong-Feng RF; Zhong, Zi-Lin ZL; Ye, Min-Jie MJ; Han, Li-Yun LY; Ye, Dong-Qing DQ; Chen, Jian-Jun JJ
Publication Date: 2016-12-05

Variant appearance in text: MYOC: L486F
PubMed Link: 27900994
Variant Present in the following documents:
  • CMJ-129-2810.pdf
View BVdb publication page