MYOC c.1447G>T ;(p.E483*)

Variant ID: 1-171605133-C-A

NM_000261.1(MYOC):c.1447G>T;(p.E483*)

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:

Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.

Experimental Eye Research
Stothert, Andrew R AR; Fontaine, Sarah N SN; Sabbagh, Jonathan J JJ; Dickey, Chad A CA
Publication Date: 2016-03

Variant appearance in text: MYOC: E483X
PubMed Link: 26302411
Variant Present in the following documents:
  • Main text
View BVdb publication page