SCN1A c.362del ;(p.A121Vfs*13)

Variant ID: 2-166915101-AG-A

NM_001165963.1(SCN1A):c.362del;(p.A121Vfs*13)

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:

A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.

Journal Of Personalized Medicine
Hong, Syuan-Yu SY; Yang, Jiann-Jou JJ; Li, Shuan-Yow SY; Lee, Inn-Chi IC
Publication Date: 2020-12-15

Variant appearance in text: SCN1A: 362delC; Ala121fs
PubMed Link: 33333793
Variant Present in the following documents:
  • Main text
  • jpm-10-00281.pdf
View BVdb publication page