SCN1A c.4062del ;(p.I1356Yfs*4)

Variant ID: 2-166859204-GA-G

NM_001165963.1(SCN1A):c.4062del;(p.I1356Yfs*4)

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:

Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families.

Epilepsia Open
Jeffrey, Jennifer S JS; Leathem, Janet J; King, Chontelle C; Mefford, Heather C HC; Ross, Kirsty K; Sadleir, Lynette G LG
Publication Date: 2021-03

Variant appearance in text: SCN1A: 4062delT
PubMed Link: 33681658
Variant Present in the following documents:
  • Main text
  • EPI4-6-149.pdf
View BVdb publication page


Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families.

Epilepsia Open
Jeffrey, Jennifer S JS; Leathem, Janet J; King, Chontelle C; Mefford, Heather C HC; Ross, Kirsty K; Sadleir, Lynette G LG
Publication Date: 2021-03

Variant appearance in text: SCN1A: 4062delT
PubMed Link: 33681658
Variant Present in the following documents:
  • Main text
  • EPI4-6-149.pdf
View BVdb publication page