FAT1 c.5480_5483del ;(p.G1827Vfs*6)

Variant ID: 4-187542257-AGCAC-A

NM_005245.3(FAT1):c.5480_5483del;(p.G1827Vfs*6)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling.

Kidney International Reports
Fabretti, Francesca F; Tschernoster, Nikolai N; Erger, Florian F; Hedergott, Andrea A; Buescher, Anja K AK; Dafinger, Claudia C; Reusch, Bjoern B; Köntges, Vincent K VK; Kohl, Stefan S; Bartram, Malte P MP; Weber, Lutz Thorsten LT; Thiele, Holger H; Altmueller, Janine J; Schermer, Bernhard B; Beck, Bodo B BB; Habbig, Sandra S
Publication Date: 2021-05

Variant appearance in text: FAT1: G1827Vfs*6
PubMed Link: 34013115
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



FAT1 biallelic truncating mutation causes a non-syndromic proteinuria in a child.

Cen Case Reports
Rossanti, Rini R; Watanabe, Toshio T; Nagano, China C; Hara, Shigeo S; Horinouchi, Tomoko T; Yamamura, Tomohiko T; Sakakibara, Nana N; Ninchoji, Takeshi T; Iijima, Kazumoto K; Nozu, Kandai K
Publication Date: 2021-02

Variant appearance in text: FAT1: 5480_5483del; G1827Vfs*6
PubMed Link: 32902815
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.

Scientific Reports
Nagano, China C; Yamamura, Tomohiko T; Horinouchi, Tomoko T; Aoto, Yuya Y; Ishiko, Shinya S; Sakakibara, Nana N; Shima, Yuko Y; Nakanishi, Koichi K; Nagase, Hiroaki H; Iijima, Kazumoto K; Nozu, Kandai K
Publication Date: 2020-01-14

Variant appearance in text: FAT1: 5480_5483del
PubMed Link: 31937884
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_57149.pdf
View BVdb publication page