MYOC c.477A>G ;(p.L159=)

Variant ID: 1-171621275-T-C

NM_000261.1(MYOC):c.477A>G;(p.L159=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetic modifiers of long-term survival in sickle cell anemia.

Clinical And Translational Medicine
Wonkam, Ambroise A; Chimusa, Emile R ER; Mnika, Khuthala K; Pule, Gift Dineo GD; Ngo Bitoungui, Valentina Josiane VJ; Mulder, Nicola N; Shriner, Daniel D; Rotimi, Charles N CN; Adeyemo, Adebowale A
Publication Date: 2020-08

Variant appearance in text: MYOC: L159L; rs61730977
PubMed Link: 32898326
Variant Present in the following documents:
  • CTM2-10-e152-s001.pdf
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: MYOC: Leu159Leu; rs61730977
PubMed Link: 22933836
Variant Present in the following documents:
  • Main text
  • mv-v18-2241.pdf
View BVdb publication page



Myocilin mutations in black South Africans with POAG.

Molecular Vision
Whigham, Benjamin T BT; Williams, Susan E I SE; Liu, Yutao Y; Rautenbach, Robyn M RM; Carmichael, Trevor R TR; Wheeler, Joshua J; Ziskind, Ari A; Qin, Xuejun X; Schmidt, Silke S; Ramsay, Michele M; Hauser, Michael A MA; Allingham, R Rand RR
Publication Date: 2011-04-27

Variant appearance in text: MYOC: 477A>G; Leu159Leu; rs61730977
PubMed Link: 21552496
Variant Present in the following documents:
  • Main text
  • mv-v17-1064.pdf
View BVdb publication page



Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.

Molecular Vision
Lopez-Martinez, Francisco F; Lopez-Garrido, Maria-Pilar MP; Sanchez-Sanchez, Francisco F; Campos-Mollo, Ezequiel E; Coca-Prados, Miguel M; Escribano, Julio J
Publication Date: 2007-06-14

Variant appearance in text: MYOC: Leu159Leu
PubMed Link: 17615537
Variant Present in the following documents:
  • Main text
  • mv-v13-862.pdf
View BVdb publication page