APC c.1408+729A>G

Variant ID: 5-112158417-A-G

NM_000038.5(APC):c.1408+729A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Frontiers In Genetics
Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S
Publication Date: 2022

Variant appearance in text: APC: 1408+729A>G
PubMed Link: 35754842
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 1
View BVdb publication page



Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.

Oncotarget
Nieminen, Taina T TT; Pavicic, Walter W; Porkka, Noora N; Kankainen, Matti M; Järvinen, Heikki J HJ; Lepistö, Anna A; Peltomäki, Päivi P
Publication Date: 2016-10-25

Variant appearance in text: APC: 1408+729A>G
PubMed Link: 27683109
Variant Present in the following documents:
  • Main text
  • oncotarget-07-70685.pdf
View BVdb publication page