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APC c.4557T>A ;(p.D1519E)
Variant ID: 5-112175848-T-A
NM_000038.5(
APC
):c.4557T>A;(p.D1519E)
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: Asp1519Glu
PubMed Link:
30272267
Variant Present in the following documents:
Main text
mmr-18-06-4931.pdf
View BVdb publication page