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MYOC c.605-2878G>C
Variant ID: 1-171610740-C-G
NM_000261.1(
MYOC
):c.605-2878G>C
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 de novo MYOC mutation detected in juvenile open angle glaucoma associated with reduced myocilin protein in aqueous humor.
European Journal Of Medical Genetics
Kuchtey, John J; Chowdhury, Uttio Roy UR; Uptegraft, Colby C CC; Fautsch, Michael P MP; Kuchtey, Rachel W RW
Publication Date: 2013-06
Variant appearance in text: rs235868
PubMed Link:
23517641
Variant Present in the following documents:
Main text
View BVdb publication page