TSC2 c.415_417delinsCAT ;(p.R139H)

Variant ID: 16-2104375-AGG-CAT

NM_000548.3(TSC2):c.415_417delinsCAT;(p.R139H)

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:

Current Coverage of the mTOR Pathway by Next-Generation Sequencing Oncology Panels.

International Journal Of Molecular Sciences
Seeboeck, Rita R; Sarne, Victoria V; Haybaeck, Johannes J
Publication Date: 2019-02-05

Variant appearance in text: TSC2: R139H
PubMed Link: 30764584
Variant Present in the following documents:
  • Main text
  • ijms-20-00690.pdf
View BVdb publication page