TSC2 c.913G>T ;(p.G305*)

Variant ID: 16-2108812-G-T

NM_000548.3(TSC2):c.913G>T;(p.G305*)

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:

Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Palsgrove, Doreen N DN; Brosnan-Cashman, Jacqueline A JA; Giannini, Caterina C; Raghunathan, Aditya A; Jentoft, Mark M; Bettegowda, Chetan C; Gokden, Murat M; Lin, Doris D; Yuan, Ming M; Lin, Ming-Tseh MT; Heaphy, Christopher M CM; Rodriguez, Fausto J FJ
Publication Date: 2018-12

Variant appearance in text: TSC2: G305*
PubMed Link: 29973652
Variant Present in the following documents:
  • Main text
  • NIHMS972465-supplement-1.xlsx, sheet 9
  • NIHMS972465-supplement-2.xlsx, sheet 1
  • nihms972465.pdf
View BVdb publication page