TSC2 c.1228_1229insG ;(p.L410Rfs*11)

Variant ID: 16-2111980-C-CG

NM_000548.3(TSC2):c.1228_1229insG;(p.L410Rfs*11)

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:

Two novel TSC2 mutations in pediatric patients with tuberous sclerosis complex: Case report.

Medicine
Gao, Shan S; Wang, Zhiling Z; Xie, Yongmei Y
Publication Date: 2018-07

Variant appearance in text: TSC2: L410RfsX11
PubMed Link: 30024541
Variant Present in the following documents:
  • Main text
View BVdb publication page