TSC2 c.4717del ;(p.E1573Sfs*3)

Variant ID: 16-2136246-CG-C

NM_000548.3(TSC2):c.4717del;(p.E1573Sfs*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:

Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Bennett, Jennifer A JA; Ordulu, Zehra Z; Pinto, Andre A; Wanjari, Pankhuri P; Antonescu, Cristina R CR; Ritterhouse, Lauren L LL; Oliva, Esther E
Publication Date: 2022-04

Variant appearance in text: TSC2: 4717del; Glu1573Serfs*3
PubMed Link: 34131293
Variant Present in the following documents:
  • NIHMS1710671-supplement-Detailed_Sequencing_Variant_List.xlsx, sheet 1
View BVdb publication page