SCN5A c.1801G>A ;(p.V601I)

Variant ID: 3-38645292-C-T

NM_000335.4(SCN5A):c.1801G>A;(p.V601I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Salivary gland cancer organoids are valid for preclinical genotype-oriented medical precision trials.

Iscience
Ishikawa, Tomohiko T; Ogawa, Takenori T; Shiihara, Masahiro M; Usubuchi, Hajime H; Omori, Yuko Y; Hirose, Katsuya K; Itoh, Taito T; Yoshida, Takuya T; Nakanome, Ayako A; Okoshi, Akira A; Higashi, Kenjiro K; Ishii, Ryo R; Rokugo, Masahiro M; Wakamori, Shun S; Okamura, Yasunobu Y; Kinoshita, Kengo K; Katori, Yukio Y; Furukawa, Toru T
Publication Date: 2023-05-19

Variant appearance in text: SCN5A: 1801G>A
PubMed Link: 37207275
Variant Present in the following documents:
  • mmc10.xlsx, sheet 1
View BVdb publication page



Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.

Frontiers In Genetics
Mkaouar, Rahma R; Abdallah, Lamia Cherif Ben LCB; Naouali, Chokri C; Lahbib, Saida S; Turki, Zinet Z; Elouej, Sahar S; Bouyacoub, Yosra Y; Somai, Maali M; Mcelreavey, Kenneth K; Bashamboo, Anu A; Abdelhak, Sonia S; Messaoud, Olfa O
Publication Date: 2021

Variant appearance in text: HH1: 1801G>A
PubMed Link: 34539727
Variant Present in the following documents:
  • Main text
  • fgene-12-665174.pdf
View BVdb publication page