TSC2 c.609T>A ;(p.C203*)

Variant ID: 16-2106206-T-A

NM_000548.3(TSC2):c.609T>A;(p.C203*)

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:

Heterozygous loss of TSC2 alters p53 signaling and human stem cell reprogramming.

Human Molecular Genetics
Armstrong, Laura C LC; Westlake, Grant G; Snow, John P JP; Cawthon, Bryan B; Armour, Eric E; Bowman, Aaron B AB; Ess, Kevin C KC
Publication Date: 2017-12-01

Variant appearance in text: TSC2: Cys203Ter
PubMed Link: 28973543
Variant Present in the following documents:
  • Main text
View BVdb publication page