FAT1 c.8626G>C ;(p.D2876H)

Variant ID: 4-187539114-C-G

NM_005245.3(FAT1):c.8626G>C;(p.D2876H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.

Epilepsia Open
Ware, Tyson L TL; Huskins, Shannon R SR; Grinton, Bronwyn E BE; Liu, Yu-Chi YC; Bennett, Mark F MF; Harvey, Michael M; McMahon, Jacinta J; Andreopoulos-Malikotsinas, Danae D; Bahlo, Melanie M; Howell, Katherine B KB; Hildebrand, Michael S MS; Damiano, John A JA; Rosenfeld, Alexander A; Mackay, Mark T MT; Mandelstam, Simone S; Leventer, Richard J RJ; Harvey, A Simon AS; Freeman, Jeremy L JL; Scheffer, Ingrid E IE; Jones, Dean L DL; Berkovic, Samuel F SF
Publication Date: 2019-09

Variant appearance in text: FAT1: 8626G>C; Asp2876His
PubMed Link: 31440733
Variant Present in the following documents:
  • Main text
  • EPI4-4-504.pdf
View BVdb publication page