APC c.2350T>A ;(p.S784T)

Variant ID: 5-112173641-T-A

NM_000038.5(APC):c.2350T>A;(p.S784T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Synonymous mutation adenomatous polyposis coliΔ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation‑negative familial adenomatous polyposis.

Molecular Medicine Reports
Liu, Wei Qing WQ; Dong, Jian J; Peng, Yan Xia YX; Li, Wen Liang WL; Yang, Jun J
Publication Date: 2018-12

Variant appearance in text: APC: Ser784Thr
PubMed Link: 30272267
Variant Present in the following documents:
  • Main text
  • mmr-18-06-4931.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: APC: S784T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page