MYOC c.975G>A ;(p.T325=)

Variant ID: 1-171605605-C-T

NM_000261.1(MYOC):c.975G>A;(p.T325=)

This variant was identified in 10 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: T325T; rs61730976
PubMed Link: 32898326
Variant Present in the following documents:
  • CTM2-10-e152-s001.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: T325T
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: Thr325Thr; rs61730976
PubMed Link: 22933836
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population.

Molecular Vision
Mendoza-Reinoso, Veronica V; Patil, Teja S TS; Guevara-Fujita, Maria L ML; Fernández, Silvia S; Vargas, Enrique E; Castillo-Herrera, Wilder W; Perez-Grossmann, Rodolfo R; Lizaraso-Caparó, Frank F; Richards, Julia E JE; Fujita, Ricardo R
Publication Date: 2012

Variant appearance in text: MYOC: Thr325Thr
PubMed Link: 22879734
Variant Present in the following documents:
  • Main text
View BVdb publication page



Myocilin mutations among POAG patients from two populations of Tamil Nadu, South India, a comparative analysis.

Molecular Vision
Rose, Rajiv R; Balakrishnan, Anandan A; Muthusamy, Karthikeyan K; Arumugam, Paramasivam P; Shanmugam, Sambandham S; Gopalswamy, Jayaraman J
Publication Date: 2011

Variant appearance in text: MYOC: Thr325Thr
PubMed Link: 22194650
Variant Present in the following documents:
  • Main text
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: 975G>A; Thr325Thr; rs61730976
PubMed Link: 21552496
Variant Present in the following documents:
  • Main text
  • mv-v17-1064.pdf
View BVdb publication page



Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.

Molecular Vision
Hilal, Latifa L; Boutayeb, Soraya S; Serrou, Aziza A; Refass-Buret, Loubna L; Shisseh, Hafsa H; Bencherifa, Fatiha F; El Mzibri, Mohammed M; Benazzouz, Bouchra B; Berraho, Amina A
Publication Date: 2010-07-02

Variant appearance in text: MYOC: T325T
PubMed Link: 20664688
Variant Present in the following documents:
  • Main text
  • mv-v16-1215.pdf
View BVdb publication page



Contributions of MYOC and CYP1B1 mutations to JOAG.

Molecular Vision
Bayat, Behnaz B; Yazdani, Shahin S; Alavi, Afagh A; Chiani, Mohsen M; Chitsazian, Fereshteh F; Tusi, Betsabeh Khoramian BK; Suri, Fatemeh F; Narooie-Nejhad, Mehrnaz M; Sanati, Mohammad H MH; Elahi, Elahe E
Publication Date: 2008-03-13

Variant appearance in text: MYOC: 975G>A; T325T
PubMed Link: 18385784
Variant Present in the following documents:
  • Main text
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: Thr325Thr
PubMed Link: 17615537
Variant Present in the following documents:
  • Main text
View BVdb publication page



Myocilin mutations among primary open angle glaucoma patients of Kanyakumari district, South India.

Molecular Vision
Rose, Rajiv R; Karthikeyan, Muthusamy M; Anandan, Balakrishnan B; Jayaraman, Gopalswamy G
Publication Date: 2007-04-02

Variant appearance in text: MYOC: Thr325Thr
PubMed Link: 17417611
Variant Present in the following documents:
  • Main text
  • mv-v13-497.pdf
View BVdb publication page