MYOC c.855G>A ;(p.T285=)

Variant ID: 1-171605725-C-T

NM_000261.1(MYOC):c.855G>A;(p.T285=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: MYOC: T285T
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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: T285T
PubMed Link: 23029558
Variant Present in the following documents:
  • Main text
  • pone.0046632.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: Thr285Thr
PubMed Link: 22933836
Variant Present in the following documents:
  • Main text
View BVdb publication page



Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.

Journal Of Human Genetics
McDonald, Kristin K KK; Abramson, Karen K; Beltran, Marco A MA; Ramirez, Maria G MG; Alvarez, Miguel M; Ventura, Alice A; Santiago-Turla, Cecilia C; Schmidt, Silke S; Hauser, Michael A MA; Allingham, R Rand RR
Publication Date: 2010-10

Variant appearance in text: MYOC: T285T
PubMed Link: 20668460
Variant Present in the following documents:
  • Main text
  • nihms-217758.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: Thr285Thr
PubMed Link: 17615537
Variant Present in the following documents:
  • Main text
  • mv-v13-862.pdf
View BVdb publication page