SCN5A c.1192T>C ;(p.F398L)

Variant ID: 3-38647588-A-G

NM_000335.4(SCN5A):c.1192T>C;(p.F398L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.

Nature Genetics
Körber, Verena V; Stainczyk, Sabine A SA; Kurilov, Roma R; Henrich, Kai-Oliver KO; Hero, Barbara B; Brors, Benedikt B; Westermann, Frank F; Höfer, Thomas T
Publication Date: 2023-03-27

Variant appearance in text: SCN5A: F398L
PubMed Link: 36973454
Variant Present in the following documents:
  • 41588_2023_1332_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Accurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis.

Scientific Reports
Shingu, Keita K; Murase, Takehiko T; Yamamoto, Takuma T; Abe, Yuki Y; Shinba, Yoriko Y; Mitsuma, Masahide M; Umehara, Takahiro T; Yamashita, Hiromi H; Ikematsu, Kazuya K
Publication Date: 2021-11-02

Variant appearance in text: SCN5A: Phe398Leu
PubMed Link: 34728707
Variant Present in the following documents:
  • 41598_2021_Article_962.pdf
View BVdb publication page