APC c.1782T>A ;(p.N594K)

Variant ID: 5-112170686-T-A

NM_000038.5(APC):c.1782T>A;(p.N594K)

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:

APC Splicing Mutations Leading to In-Frame Exon 12 or Exon 13 Skipping Are Rare Events in FAP Pathogenesis and Define the Clinical Outcome.

Genes
Disciglio, Vittoria V; Forte, Giovanna G; Fasano, Candida C; Sanese, Paola P; Lepore Signorile, Martina M; De Marco, Katia K; Grossi, Valentina V; Cariola, Filomena F; Simone, Cristiano C
Publication Date: 2021-02-28

Variant appearance in text: APC: N594K
PubMed Link: 33670833
Variant Present in the following documents:
  • Main text
  • genes-12-00353.pdf
View BVdb publication page