APC c.3775A>C ;(p.I1259L)

Variant ID: 5-112175066-A-C

NM_000038.5(APC):c.3775A>C;(p.I1259L)

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:

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: 3775A>C; Ile1259Leu
PubMed Link: 30272267
Variant Present in the following documents:
  • Main text
  • mmr-18-06-4931.pdf
View BVdb publication page