TSC2 c.5238del ;(p.H1746Qfs*80)

Variant ID: 16-2138305-AC-A

NM_000548.3(TSC2):c.5238del;(p.H1746Qfs*80)

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:

MITF is a driver oncogene and potential therapeutic target in kidney angiomyolipoma tumors through transcriptional regulation of CYR61.

Oncogene
Zarei, Mahsa M; Giannikou, Krinio K; Du, Heng H; Liu, Heng-Jia HJ; Duarte, Melissa M; Johnson, Sneha S; Nassar, Amin H AH; Widlund, Hans R HR; Henske, Elizabeth P EP; Long, Henry W HW; Kwiatkowski, David J DJ
Publication Date: 2021-01

Variant appearance in text: TSC2: 5238delC; H1746Qfs*80
PubMed Link: 33082558
Variant Present in the following documents:
  • NIHMS1634322-supplement-5.pdf
View BVdb publication page