SCN1A c.3611G>A ;(p.W1204*)

Variant ID: 2-166870348-C-T

NM_001165963.1(SCN1A):c.3611G>A;(p.W1204*)

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:

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: 3611G>A; Trp1204*
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: 3611G>A; Trp1204*
PubMed Link: 34379890
Variant Present in the following documents:
  • Main text
  • EPI4-6-685.pdf
View BVdb publication page