SCN1A c.296_313del ;(p.I99_A104del)

Variant ID: 2-166915149-GTGGCACTGAACCGGAAGA-G

NM_001165963.1(SCN1A):c.296_313del;(p.I99_A104del)

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:

Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in SCN1A.

Frontiers In Molecular Neuroscience
Wang, Jing-Yang JY; Tang, Bin B; Sheng, Wen-Xiang WX; Hua, Li-Dong LD; Zeng, Yang Y; Fan, Cui-Xia CX; Deng, Wei-Yi WY; Gao, Mei-Mei MM; Zhu, Wei-Wen WW; He, Na N; Su, Tao T
Publication Date: 2022

Variant appearance in text: SCN1A: Ile99_Ala104del
PubMed Link: 35359575
Variant Present in the following documents:
  • Main text
  • fnmol-15-828846.pdf
View BVdb publication page


Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Frontiers In Neurology
Gonsales, Marina C MC; Montenegro, Maria Augusta MA; Preto, Paula P; Guerreiro, Marilisa M MM; Coan, Ana Carolina AC; Quast, Monica Paiva MP; Carvalho, Benilton S BS; Lopes-Cendes, Iscia I
Publication Date: 2019

Variant appearance in text: SCN1A: 296_313delTCTTCCGGTTCAGTGCCA
PubMed Link: 31001185
Variant Present in the following documents:
  • Main text
  • fneur-10-00289.pdf
View BVdb publication page