SCN1A c.5370_5373del ;(p.S1790Rfs*10)

Variant ID: 2-166848412-CAACA-C

NM_001165963.1(SCN1A):c.5370_5373del;(p.S1790Rfs*10)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.

Npj Genomic Medicine
Tuncay, Islam Oguz IO; Parmalee, Nancy L NL; Khalil, Raida R; Kaur, Kiran K; Kumar, Ashwani A; Jimale, Mohamed M; Howe, Jennifer L JL; Goodspeed, Kimberly K; Evans, Patricia P; Alzghoul, Loai L; Xing, Chao C; Scherer, Stephen W SW; Chahrour, Maria H MH
Publication Date: 2022-02-21

Variant appearance in text: SCN1A: 5370_5373del; S1790fs
PubMed Link: 35190550
Variant Present in the following documents:
  • 41525_2022_284_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page