TSC2 c.3225C>A ;(p.T1075=)

Variant ID: 16-2129370-C-A

NM_000548.3(TSC2):c.3225C>A;(p.T1075=)

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:

A reliable cell-based assay for testing unclassified TSC2 gene variants.

European Journal Of Human Genetics : Ejhg
Coevoets, Ricardo R; Arican, Sermin S; Hoogeveen-Westerveld, Marianne M; Simons, Erik E; van den Ouweland, Ans A; Halley, Dicky D; Nellist, Mark M
Publication Date: 2009-03

Variant appearance in text: TSC2: T1075T
PubMed Link: 18854862
Variant Present in the following documents:
  • Main text
View BVdb publication page