SCN1A c.5400_5401insT ;(p.S1801*)

Variant ID: 2-166848384-T-TA

NM_001165963.1(SCN1A):c.5400_5401insT;(p.S1801*)

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: N/A
PubMed Link: 35190550
Variant Present in the following documents:
View BVdb publication page