Variant ID: 1-171621227-C-A

NM_000261.1(MYOC):c.525G>T;(p.Gln175His)

This variant was identified in 1 publication




Publications:


Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.

Plos Genetics
Y Tanigawa, M Wainberg, J Karjalainen, T Kiiskinen, G Venkataraman, S Lemmelä, JA Turunen, RR Graham, AS Havulinna, M Perola, A Palotie, , MJ Daly, MA Rivas
Publication Date: 2020-05

Variant appearance in text: MYOC: Gln175His
PubMed Link: 32369491
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000037502.6 c.525G>T p.Gln175His missense_variant 1/3 -
NM_000261.2 c.525G>T p.Gln175His missense_variant 1/3 -