TSC2 c.651_652insAC ;(p.S218Tfs*43)

Variant ID: 16-2106646-T-TCA

NM_000548.3(TSC2):c.651_652insAC;(p.S218Tfs*43)

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:

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Pediatric Neurology
Butler, Kameryn M KM; da Silva, Cristina C; Alexander, John J JJ; Hegde, Madhuri M; Escayg, Andrew A
Publication Date: 2017-12

Variant appearance in text: TSC2: Ser218Thrfs
PubMed Link: 29056246
Variant Present in the following documents:
  • Main text
View BVdb publication page