KIF5C, kinesin family member 5C, 3800

N. diseases: 33; N. variants: 3
Disease: Deformity ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777570
rs587777570
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C0302142
Disease:
Deformity 		0.010 GeneticVariation BEFREE A female patient with a de novo missense mutation in KIF5C (c.11465A>C; p.(Glu237Lys)) presented with severe ID, epilepsy, microcephaly and cortical malformation. 24812067 2014