Bibliome.ai browser hg19
Search
About
Stats
FAQ
MYOC c.1188G>C ;(p.E396D)
Variant ID: 1-171605392-C-G
NM_000261.1(
MYOC
):c.1188G>C;(p.E396D)
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:
Physiological function of myocilin and its role in the pathogenesis of glaucoma in the trabecular meshwork (Review).
International Journal Of Molecular Medicine
Wang, Hongwei H; Li, Mingzhe M; Zhang, Zhenzhen Z; Xue, Haifeng H; Chen, Xing X; Ji, Yong Y
Publication Date: 2019-02
Variant appearance in text: MYOC: Glu396Asp
PubMed Link:
30483726
Variant Present in the following documents:
Main text
ijmm-43-02-0671.pdf
View BVdb publication page