ST3GAL3 c.781C>T ;(p.R261*)

Variant ID: 1-44386112-C-T

NM_006279.3(ST3GAL3):c.781C>T;(p.R261*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The Epilepsy Phenotype of ST3GAL3-related Developmental and Epileptic Encephalopathy.

Epilepsia Open
Whitney, Robyn R; Jain, Puneet P; RamachandranNair, Rajesh R; Jones, Kevin C KC; Kiani, Hassan H; Tarnopolsky, Mark M; Meaney, Brandon B
Publication Date: 2023-04-17

Variant appearance in text: ST3GAL3: 781C>T; Arg261*
PubMed Link: 37067065
Variant Present in the following documents:
  • Main text
  • EPI4-8-623.pdf
View BVdb publication page