APC c.1318G>A ;(p.A440T)

Variant ID: 5-112157598-G-A

NM_000038.5(APC):c.1318G>A;(p.A440T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: APC: A440T; rs1064793023
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Short tandem repeat profiling for the authentication of cancer stem-like cells.

International Journal Of Cancer
Visconti, Paola P; Parodi, Federica F; Parodi, Barbara B; Casarino, Lucia L; Romano, Paolo P; Buccarelli, Mariachiara M; Pallini, Roberto R; D'Alessandris, Quintino Giorgio QG; Montori, Andrea A; Pilozzi, Emanuela E; Ricci-Vitiani, Lucia L
Publication Date: 2021-03-15

Variant appearance in text: APC: 1318G>A; Ala440Thr
PubMed Link: 33128777
Variant Present in the following documents:
  • IJC-148-1489-s001.pdf
View BVdb publication page