SCN1A c.2911G>C ;(p.V971L)

Variant ID: 2-166894321-C-G

NM_001165963.1(SCN1A):c.2911G>C;(p.V971L)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Frontiers In Pharmacology
Menezes, Luis Felipe Santos LFS; Sabiá Júnior, Elias Ferreira EF; Tibery, Diogo Vieira DV; Carneiro, Lilian Dos Anjos LDA; Schwartz, Elisabeth Ferroni EF
Publication Date: 2020

Variant appearance in text: SCN1A: V971L
PubMed Link: 33013363
Variant Present in the following documents:
  • Main text
  • fphar-11-01276.pdf
View BVdb publication page


Dravet syndrome: a new causative SCN1A mutation?

Clinical Case Reports
Poryo, Martin M; Clasen, Oriana O; Oehl-Jaschkowitz, Barbara B; Christmann, Alexander A; Gortner, Ludwig L; Meyer, Sascha S
Publication Date: 2017-05

Variant appearance in text: SCN1A: 2911G>C
PubMed Link: 28469861
Variant Present in the following documents:
  • Main text
  • CCR3-5-613.pdf
View BVdb publication page