TPRN c.1848_1850del ;(p.E621del)

Variant ID: 9-140087018-TTCC-T

NM_001128228.2(TPRN):c.1848_1850del;(p.E621del)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics
Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF
Publication Date: 2023-02-28

Variant appearance in text: TPRN: 1846_1848del
PubMed Link: 36855133
Variant Present in the following documents:
  • 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: TPRN: 1848_1850del
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s2.xlsx, sheet 4
View BVdb publication page