MYOC c.761C>T ;(p.P254L)

Variant ID: 1-171605819-G-A

NM_000261.1(MYOC):c.761C>T;(p.P254L)

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:

A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma.

Bmc Medical Genetics
Souzeau, Emmanuelle E; Burdon, Kathryn P KP; Ridge, Bronwyn B; Dubowsky, Andrew A; Ruddle, Jonathan B JB; Craig, Jamie E JE
Publication Date: 2016-04-14

Variant appearance in text: MYOC: Pro254Leu
PubMed Link: 27080696
Variant Present in the following documents:
  • Main text
  • 12881_2016_Article_291.pdf
View BVdb publication page