TSC2 c.3759_3772del ;(p.S1254Qfs*63)

TSC2 c.3759_3772del ;(p.S1254Qfs*63)

Variant ID: 16-2131744-TGTCGGTGCCGGCAG-T

NM_000548.3(TSC2):c.3759_3772del;(p.S1254Qfs*63)

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:

DNA methylation reveals distinct cells of origin for pancreatic neuroendocrine carcinomas and pancreatic neuroendocrine tumors.

Genome Medicine

Simon, Tincy T; Riemer, Pamela P; Jarosch, Armin A; Detjen, Katharina K; Di Domenico, Annunziata A; Bormann, Felix F; Menne, Andrea A; Khouja, Slim S; Monjé, Nanna N; Childs, Liam H LH; Lenze, Dido D; Leser, Ulf U; Rossner, Florian F; Morkel, Markus M; Blüthgen, Nils N; Pavel, Marianne M; Horst, David D; Capper, David D; Marinoni, Ilaria I; Perren, Aurel A; Mamlouk, Soulafa S; Sers, Christine C

Publication Date: 2022-03-01

Variant appearance in text: TSC2: 3759_3772delGTCGGTGCCGGCAG

PubMed Link: 35227293

Variant Present in the following documents:

13073_2022_1018_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page