Annotation Detail
Information
- Associated Genes
- FAT4
- Associated Variants
-
FAT4 p.Ser4840LeufsTer3 (p.S4840Lfs*3)
(
ENST00000335110.5,
ENST00000394329.9,
ENST00000674496.2 )
FAT4 p.Ser4840LeufsTer3 (p.S4840Lfs*3) ( ENST00000335110.5, ENST00000394329.9, ENST00000674496.2 )
FAT4 p.Glu2375Lys (p.E2375K) ( ENST00000335110.5, ENST00000394329.9, ENST00000674496.2 )
FAT4 p.Glu3163Lys (p.E3163K) ( ENST00000335110.5, ENST00000394329.9, ENST00000674496.2 )
FAT4 p.Glu3163Ter (p.E3163*) ( ENST00000335110.5, ENST00000394329.9, ENST00000674496.2 )
FAT4 p.Arg3821Ter (p.R3821*) ( ENST00000335110.5, ENST00000394329.9, ENST00000674496.2 )
FAT4 p.Cys4161Phe (p.C4161F) ( ENST00000335110.5, ENST00000394329.9, ENST00000674496.2 )
FAT4 p.Cys4400Tyr (p.C4400Y) ( ENST00000335110.5, ENST00000394329.9, ENST00000674496.2 )
FAT4 p.Glu2375Lys (p.E2375K) ( ENST00000335110.5, ENST00000394329.9, ENST00000674496.2 )
FAT4 p.Glu3163Lys (p.E3163K) ( ENST00000335110.5, ENST00000394329.9, ENST00000674496.2 )
FAT4 p.Glu3163Ter (p.E3163*) ( ENST00000335110.5, ENST00000394329.9, ENST00000674496.2 )
FAT4 p.Arg3821Ter (p.R3821*) ( ENST00000335110.5, ENST00000394329.9, ENST00000674496.2 )
FAT4 p.Cys4161Phe (p.C4161F) ( ENST00000335110.5, ENST00000394329.9, ENST00000674496.2 )
FAT4 p.Cys4400Tyr (p.C4400Y) ( ENST00000335110.5, ENST00000394329.9, ENST00000674496.2 ) - Associated Disease
- Van Maldergem syndrome 2
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- NA
Drugs