SCN1A c.986G>T ;(p.G329V)

Variant ID: 2-166905438-C-A

NM_001165963.1(SCN1A):c.986G>T;(p.G329V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

Jama Network Open
SoRelle, Jeffrey A JA; Pascual, Juan M JM; Gotway, Garrett G; Park, Jason Y JY
Publication Date: 2020-04-01

Variant appearance in text: SCN1A: 986G>T; Gly329Val
PubMed Link: 32347949
Variant Present in the following documents:
  • Main text
  • jamanetwopen-3-e203812-s001.pdf
View BVdb publication page