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PSEN1 c.1375C>G ;(p.Q459E)
Variant ID: 14-73685968-C-G
NM_000021.3(
PSEN1
):c.1375C>G;(p.Q459E)
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:
Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1.
Heart (British Cardiac Society)
Shimamoto, Keiko K; Ohno, Seiko S; Kato, Koichi K; Takayama, Koichiro K; Sonoda, Keiko K; Fukuyama, Megumi M; Makiyama, Takeru T; Okamura, Satomi S; Asakura, Koko K; Imanishi, Noriaki N; Kato, Yoshiaki Y; Sakaguchi, Heima H; Kamakura, Tsukasa T; Wada, Mitsuru M; Yamagata, Kenichiro K; Ishibashi, Kohei K; Inoue, Yuko Y; Miyamoto, Koji K; Nagase, Satoshi S; Kusano, Kengo K; Horie, Minoru M; Aiba, Takeshi T
Publication Date: 2022-05-12
Variant appearance in text: PS1: 1375C>G
PubMed Link:
35135837
Variant Present in the following documents:
heartjnl-2021-320220supp001.pdf
View BVdb publication page