TSC2 c.1461_1462del ;(p.V488Gfs*12)

Variant ID: 16-2114290-CAG-C

NM_000548.3(TSC2):c.1461_1462del;(p.V488Gfs*12)

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:

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.

Human Molecular Genetics
Tyburczy, Magdalena E ME; Wang, Ji-An JA; Li, Shaowei S; Thangapazham, Rajesh R; Chekaluk, Yvonne Y; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN
Publication Date: 2014-04-15

Variant appearance in text: TSC2: 1461_1462delAG
PubMed Link: 24271014
Variant Present in the following documents:
  • Main text
View BVdb publication page