SCN1A c.3136G>A ;(p.D1046N)

Variant ID: 2-166892851-C-T

NM_001165963.1(SCN1A):c.3136G>A;(p.D1046N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism.

Molecular Psychiatry
Rubinstein, M M; Patowary, A A; Stanaway, I B IB; McCord, E E; Nesbitt, R R RR; Archer, M M; Scheuer, T T; Nickerson, D D; Raskind, W H WH; Wijsman, E M EM; Bernier, R R; Catterall, W A WA; Brkanac, Z Z
Publication Date: 2018-02

Variant appearance in text: SCN1A: D1046N
PubMed Link: 27956748
Variant Present in the following documents:
  • Main text
  • mp2016222a.pdf
View BVdb publication page