SCN1A c.1489del ;(p.R497Efs*47)

Variant ID: 2-166901725-CT-C

NM_001165963.1(SCN1A):c.1489del;(p.R497Efs*47)

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:

Late diagnoses of Dravet syndrome: How many individuals are we missing?

Epilepsia Open
Silvennoinen, Katri K; Puvirajasinghe, Clinda C; Hudgell, Kirsty K; Sidhu, Meneka K MK; Martins Custodio, Helena H; , ; Jones, Wendy D WD; Balestrini, Simona S; Sisodiya, Sanjay M SM
Publication Date: 2021-12

Variant appearance in text: SCN1A: 1489del
PubMed Link: 34268891
Variant Present in the following documents:
  • Main text
View BVdb publication page


Late diagnoses of Dravet syndrome: How many individuals are we missing?

Epilepsia Open
Silvennoinen, Katri K; Puvirajasinghe, Clinda C; Hudgell, Kirsty K; Sidhu, Meneka K MK; Martins Custodio, Helena H; , ; Jones, Wendy D WD; Balestrini, Simona S; Sisodiya, Sanjay M SM
Publication Date: 2021-12

Variant appearance in text: SCN1A: 1489del
PubMed Link: 34268891
Variant Present in the following documents:
  • Main text
View BVdb publication page