TSC2 c.655dup ;(p.L219Pfs*16)

Variant ID: 16-2106648-T-TC

NM_000548.3(TSC2):c.655dup;(p.L219Pfs*16)

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:

Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial.

Plos One
Gijezen, Lieke M C LM; Vernooij, Marigje M; Martens, Herm H; Oduber, Charlene E U CE; Henquet, Charles J M CJ; Starink, Theo M TM; Prins, Martin H MH; Menko, Fred H FH; Nelemans, Patty J PJ; van Steensel, Maurice A M MA
Publication Date: 2014

Variant appearance in text: TSC2: 655dupC
PubMed Link: 24910976
Variant Present in the following documents:
  • Main text
  • pone.0099071.pdf
View BVdb publication page