MYOC c.823A>T ;(p.K275*)

Variant ID: 1-171605757-T-A

NM_000261.1(MYOC):c.823A>T;(p.K275*)

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: rs879255525
PubMed Link: 32742340
Variant Present in the following documents:
  • Main text
  • etm-20-02-0968.pdf
View BVdb publication page



A novel single nucleotide polymorphism in exon 3 of MYOC enhances the risk of glaucoma.

Plos One
Nazir, Sabeen S; Mukhtar, Maryam M; Shahnawaz, Maryam M; Farooqi, Shaima S; Fatima, Naz N; Mehmood, Rabia R; Sheikh, Nadeem N
Publication Date: 2018

Variant appearance in text: rs879255525
PubMed Link: 29630620
Variant Present in the following documents:
  • Main text
  • pone.0195157.pdf
View BVdb publication page