TSC2 c.3691_3707del ;(p.L1231Gfs*3)

Variant ID: 16-2131676-GCTGTCTAACGCCCTCAT-G

NM_000548.3(TSC2):c.3691_3707del;(p.L1231Gfs*3)

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: 3691_3707del
PubMed Link: 24271014
Variant Present in the following documents:
  • Main text
View BVdb publication page