TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Disease: Unverricht-Lundborg Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1335526524
rs1335526524
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		0.010 GeneticVariation BEFREE Remarkably, a recurrent de novo mutation, c.959G>A (p.Arg320His), in KCNC1 was identified as a new major cause for PME. 25401298 2015