SECISBP2 c.1612A>G ;(p.K538E)

Variant ID: 9-91963003-A-G

NM_024077.3(SECISBP2):c.1612A>G;(p.K538E)

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:

Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).

Npj Genomic Medicine
Friedman, Daniel D; Kannan, Kasthuri K; Faustin, Arline A; Shroff, Seema S; Thomas, Cheddhi C; Heguy, Adriana A; Serrano, Jonathan J; Snuderl, Matija M; Devinsky, Orrin O
Publication Date: 2018

Variant appearance in text: SECISBP2: K538E
PubMed Link: 29619247
Variant Present in the following documents:
  • 41525_2018_48_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page