MYOC c.369C>T ;(p.T123=)

Variant ID: 1-171621383-G-A

NM_000261.1(MYOC):c.369C>T;(p.T123=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.

Investigative Ophthalmology & Visual Science
Yang, Entuan E; Yu, Jifeng J; Liu, Xue X; Chu, Huihui H; Li, Li L
Publication Date: 2023-05-01

Variant appearance in text: MYOC: 369C>T
PubMed Link: 37191617
Variant Present in the following documents:
  • Main text
  • iovs-64-5-10_s001.pdf
View BVdb publication page



Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients.

Molecular Medicine Reports
Park, Joonhong J; Kim, Myungshin M; Park, Chan Kee CK; Chae, Hyojin H; Lee, Seungok S; Kim, Yonggoo Y; Jang, Woori W; Chi, Hyun Young HY; Park, Hae-Young Lopilly HY; Park, Shin Hae SH
Publication Date: 2016-09

Variant appearance in text: MYOC: 369C>T; Thr123=; rs75682756
PubMed Link: 27485216
Variant Present in the following documents:
  • Main text
  • mmr-14-03-2439.pdf
View BVdb publication page



Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.

Plos One
Cheng, Jin-Wei JW; Cheng, Shi-Wei SW; Ma, Xiao-Ye XY; Cai, Ji-Ping JP; Li, You Y; Lu, Guo-Cai GC; Wei, Rui-Li RL
Publication Date: 2012

Variant appearance in text: MYOC: T123T
PubMed Link: 23029558
Variant Present in the following documents:
  • Main text
  • pone.0046632.pdf
View BVdb publication page



Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese.

Molecular Vision
Jia, Li-Yun LY; Tam, Pancy Oi-Sin PO; Chiang, Sylvia Wai-Yee SW; Ding, Ning N; Chen, Li Jia LJ; Yam, Gary Hin-Fai GH; Pang, Chi-Pui CP; Wang, Ning-Li NL
Publication Date: 2009

Variant appearance in text: MYOC: T123T
PubMed Link: 19145250
Variant Present in the following documents:
  • Main text
View BVdb publication page