MYOC c.729C>A ;(p.T243=)

Variant ID: 1-171607738-G-T

NM_000261.1(MYOC):c.729C>A;(p.T243=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: MYOC: 729C>A
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

American Journal Of Human Genetics
Vincent, Andrea L AL; Billingsley, Gail G; Buys, Yvonne Y; Levin, Alex V AV; Priston, Megan M; Trope, Graham G; Williams-Lyn, Donna D; Héon, Elise E
Publication Date: 2002-02

Variant appearance in text: MYOC: Thr243Thr
PubMed Link: 11774072
Variant Present in the following documents:
  • Main text
View BVdb publication page