MYOC c.719A>G ;(p.E240G)

Variant ID: 1-171607748-T-C

NM_000261.1(MYOC):c.719A>G;(p.E240G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Updates on the molecular genetics of primary congenital glaucoma (Review).

Experimental And Therapeutic Medicine
Ling, Chen C; Zhang, Dingding D; Zhang, Jing J; Sun, Huanxin H; Du, Qiu Q; Li, Xuefei X
Publication Date: 2020-08

Variant appearance in text: MYOC: E240G
PubMed Link: 32742340
Variant Present in the following documents:
  • Main text
  • etm-20-02-0968.pdf
View BVdb publication page



Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.

Molecular Vision
Kim, Hee-Jung HJ; Suh, Wool W; Park, Sung Chul SC; Kim, Chan Yun CY; Park, Ki Ho KH; Kook, Michael S MS; Kim, Yong Yeon YY; Kim, Chang-Sik CS; Park, Chan Kee CK; Ki, Chang-Seok CS; Kee, Changwon C
Publication Date: 2011

Variant appearance in text: MYOC: 719A>G; E240G
PubMed Link: 21850185
Variant Present in the following documents:
  • Main text
  • mv-v17-2093.pdf
View BVdb publication page