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ARID1A c.4293T>A ;(p.Y1431*)
Variant ID: 1-27101011-T-A
NM_006015.4(
ARID1A
):c.4293T>A;(p.Y1431*)
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:
ARID1A protein expression is retained in ovarian endometriosis with ARID1A loss-of-function mutations: implication for the two-hit hypothesis.
Scientific Reports
Yachida, Nozomi N; Yoshihara, Kosuke K; Suda, Kazuaki K; Nakaoka, Hirofumi H; Ueda, Haruka H; Sugino, Kentaro K; Yamaguchi, Manako M; Mori, Yutaro Y; Yamawaki, Kaoru K; Tamura, Ryo R; Ishiguro, Tatsuya T; Isobe, Masanori M; Motoyama, Teiichi T; Inoue, Ituro I; Enomoto, Takayuki T
Publication Date: 2020-08-31
Variant appearance in text: ARID1A: Y1431X
PubMed Link:
32868822
Variant Present in the following documents:
Main text
41598_2020_Article_71273.pdf
View BVdb publication page