SCN5A c.2995_2996delinsCT ;(p.G999L)

Variant ID: 3-38622654-CC-AG

NM_000335.4(SCN5A):c.2995_2996delinsCT;(p.G999L)

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:

Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.

Frontiers In Neurology
Ademuwagun, Ibitayo Abigail IA; Rotimi, Solomon Oladapo SO; Syrbe, Steffen S; Ajamma, Yvonne Ukamaka YU; Adebiyi, Ezekiel E
Publication Date: 2021

Variant appearance in text: SCN5A: G999L
PubMed Link: 33841294
Variant Present in the following documents:
  • Main text
  • fneur-12-600050.pdf
View BVdb publication page