ST3GAL3 c.660C>A ;(p.Y220*)

Variant ID: 1-44365315-C-A

NM_006279.3(ST3GAL3):c.660C>A;(p.Y220*)

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: 660C>A; Tyr220Ter
PubMed Link: 37067065
Variant Present in the following documents:
  • Main text
  • EPI4-8-623.pdf
View BVdb publication page