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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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