TSC2 c.389del ;(p.Y130Sfs*52)

Variant ID: 16-2104349-TA-T

NM_000548.3(TSC2):c.389del;(p.Y130Sfs*52)

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:

[Epithelioid angiomyolipoma of the kidney after successfully treated malignant melanoma].

Der Urologe. Ausg. A
Rothe, H H; Gaber, A A; Dittrich, B B; Nagel, M M; Tuffaha, M M; Hoschke, B B
Publication Date: 2022-02

Variant appearance in text: TSC2: 389delA
PubMed Link: 34605930
Variant Present in the following documents:
  • 120_2021_Article_1662.pdf
View BVdb publication page