APC c.387_388insT ;(p.S130*)

Variant ID: 5-112103052-A-AT

NM_000038.5(APC):c.387_388insT;(p.S130*)

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:

A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.

Molecular Medicine Reports
Pang, Minghui M; Liu, Yijun Y; Hou, Xiaolin X; Yang, Jialiang J; He, Xuelai X; Hou, Nengyi N; Liu, Peixi P; Liang, Luo L; Fu, Junwen J; Wang, Kang K; Ye, Zimeng Z; Gong, Bo B
Publication Date: 2018-08

Variant appearance in text: APC: 387insT
PubMed Link: 29901124
Variant Present in the following documents:
  • Main text
  • mmr-18-02-1423.pdf
View BVdb publication page