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.




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