SCN1A c.3641T>G ;(p.I1214R)

Variant ID: 2-166870318-A-C

NM_001165963.1(SCN1A):c.3641T>G;(p.I1214R)

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:

High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.

Epilepsia Open
Kwong, Anna Ka-Yee AK; Wong, Virginia Chun-Nei VC; Wong, Sheila Suet-Na SS; Chu, Vanessa Loi-Yan VL; Koene, Saskia S; Smeitink, Jan J; Fung, Cheuk-Wing CW
Publication Date: 2021-12

Variant appearance in text: SCN1A: 3641T>G; Ile1214Arg
PubMed Link: 34379890
Variant Present in the following documents:
  • Main text
  • EPI4-6-685.pdf
View BVdb publication page


High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.

Epilepsia Open
Kwong, Anna Ka-Yee AK; Wong, Virginia Chun-Nei VC; Wong, Sheila Suet-Na SS; Chu, Vanessa Loi-Yan VL; Koene, Saskia S; Smeitink, Jan J; Fung, Cheuk-Wing CW
Publication Date: 2021-12

Variant appearance in text: SCN1A: 3641T>G; Ile1214Arg
PubMed Link: 34379890
Variant Present in the following documents:
  • Main text
  • EPI4-6-685.pdf
View BVdb publication page


Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

Plos One
Kwong, Anna Ka-Yee AK; Fung, Cheuk-Wing CW; Chan, Siu-Yuen SY; Wong, Virginia Chun-Nei VC
Publication Date: 2012

Variant appearance in text: SCN1A: 3641T>G
PubMed Link: 22848613
Variant Present in the following documents:
  • Main text
  • pone.0041802.pdf
View BVdb publication page