APC c.4292T>A ;(p.M1431K)

Variant ID: 5-112175583-T-A

NM_000038.5(APC):c.4292T>A;(p.M1431K)

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:

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Hereditary Cancer In Clinical Practice
Henn, Jonas J; Spier, Isabel I; Adam, Ronja S RS; Holzapfel, Stefanie S; Uhlhaas, Siegfried S; Kayser, Katrin K; Plotz, Guido G; Peters, Sophia S; Aretz, Stefan S
Publication Date: 2019

Variant appearance in text: APC: 4292T>A; Met1431Lys
PubMed Link: 30680046
Variant Present in the following documents:
  • Main text
  • 13053_2018_102_MOESM5_ESM.xlsx, sheet 1
  • 13053_2018_Article_102.pdf
View BVdb publication page