FAT1 c.5648T>A ;(p.L1883*)

Variant ID: 4-187542092-A-T

NM_005245.3(FAT1):c.5648T>A;(p.L1883*)

This variant was identified in 1 publication

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: 5648T>A
PubMed Link: 34013115
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page