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MYOC c.419C>G ;(p.T140S)
Variant ID: 1-171621333-G-C
NM_000261.1(
MYOC
):c.419C>G;(p.T140S)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: GLC1A: T140S
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
Comprehensive analysis of myocilin variants in east Indian POAG patients.
Molecular Vision
Banerjee, Deblina D; Bhattacharjee, Ashima A; Ponda, Archisman A; Sen, Abhijit A; Ray, Kunal K
Publication Date: 2012
Variant appearance in text: MYOC: 419C>G; Thr140Ser
PubMed Link:
22736945
Variant Present in the following documents:
Main text
mv-v18-1548.pdf
View BVdb publication page