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

Variant ID: 1-171607738-G-C

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

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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