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MYOC c.891G>C ;(p.Q297H)
Variant ID: 1-171605689-C-G
NM_000261.1(
MYOC
):c.891G>C;(p.Q297H)
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:
Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand?
Journal Of Clinical Medicine
Belamkar, Aditya A; Harris, Alon A; Oddone, Francesco F; Verticchio Vercellin, Alice A; Fabczak-Kubicka, Anna A; Siesky, Brent B
Publication Date: 2022-04-28
Variant appearance in text: MYOC: Gln297His
PubMed Link:
35566612
Variant Present in the following documents:
jcm-11-02486.pdf
View BVdb publication page
Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.
Molecular Vision
Mengkegale, MingGe M; Fuse, Nobuo N; Miyazawa, Akiko A; Takahashi, Kana K; Seimiya, Motohiko M; Yasui, Tomoki T; Tamai, Makoto M; Nakazawa, Toru T; Nishida, Kohji K
Publication Date: 2008-03-04
Variant appearance in text: MYOC: Gln297His
PubMed Link:
18334962
Variant Present in the following documents:
Main text
mv-v14-413.pdf
View BVdb publication page