ATM c.32G>T ;(p.C11F)

Variant ID: 11-108098383-G-T

NM_000051.3(ATM):c.32G>T;(p.C11F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: ATM: C11F
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 3
  • mmc6.xlsx, sheet 1
  • mmc6.xlsx, sheet 2
View BVdb publication page



Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

European Journal Of Human Genetics : Ejhg
Cavalieri, Simona S; Pozzi, Elisa E; Gatti, Richard A RA; Brusco, Alfredo A
Publication Date: 2013-07

Variant appearance in text: ATM: c11F
PubMed Link: 23211698
Variant Present in the following documents:
  • Main text
View BVdb publication page