SCN1A c.5504_5512del ;(p.L1835_P1837del)

Variant ID: 2-166848272-GGCGGTTCAA-G

NM_001165963.1(SCN1A):c.5504_5512del;(p.L1835_P1837del)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics
Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF
Publication Date: 2023-02-28

Variant appearance in text: SCN1A: 5503_5511del
PubMed Link: 36855133
Variant Present in the following documents:
  • 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: Leu1835_Pro1837del
PubMed Link: 35359575
Variant Present in the following documents:
  • Main text
  • fnmol-15-828846.pdf
View BVdb publication page