MYOC c.39T>G ;(p.P13=)

Variant ID: 1-171621713-A-C

NM_000261.1(MYOC):c.39T>G;(p.P13=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30

Variant appearance in text: rs12082573
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.

Molecular Vision
Liu, Wenjing W; Liu, Yutao Y; Challa, Pratap P; Herndon, Leon W LW; Wiggs, Janey L JL; Girkin, Christopher A CA; Allingham, R Rand RR; Hauser, Michael A MA
Publication Date: 2012

Variant appearance in text: N/A
PubMed Link: 22933836
Variant Present in the following documents:
View BVdb publication page



Myocilin polymorphisms and high myopia in subjects of European origin.

Molecular Vision
Zayats, Tetyana T; Yanovitch, Tammy T; Creer, Rosalind C RC; McMahon, George G; Li, Yi-Ju YJ; Young, Terri L TL; Guggenheim, Jeremy A JA
Publication Date: 2009

Variant appearance in text: rs12082573
PubMed Link: 19180258
Variant Present in the following documents:
  • Main text
  • mv-v15-213.pdf
View BVdb publication page