KIF5C Chromosome 2

Kinesin family member 5C
9 variants 9 Health Risk

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What This Gene Does
The protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]
Gene Info
Gene Group
Kinesins
Locus Type
gene with protein product
Location
2q23.1-q23.2
Ensembl
ENSG00000168280
Associated Conditions (2)
Complex cortical dysplasia with other brain malformations 2
Craniosynostosis syndrome
Key Variants
RS376592911
Conflicting classifications of pathogenicity
Health Risk
RS777411017
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 2, Craniosynostosis syndrome, Complex cortical dysplasia with other brain malformations 2
Health Risk
RS954203955
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
Health Risk
RS2468202034
Likely pathogenic
Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
Health Risk
RS587777035
Likely pathogenic
Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
Health Risk
RS1215264639
Pathogenic
Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
Health Risk
RS1553463778
Pathogenic/Likely pathogenic
Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
Health Risk
RS2105091650
Pathogenic/Likely pathogenic
Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
Health Risk
RS587777570
Pathogenic/Likely pathogenic
Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
Health Risk
All Variants (9)
RSID Category Clinical Significance Conditions
RS376592911 Health Risk Conflicting classifications of pathogenicity
RS777411017 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 2, Craniosynostosis syndrome, Complex cortical dysplasia with other brain malformations 2
RS954203955 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
RS2468202034 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
RS587777035 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
RS1215264639 Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
RS1553463778 Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
RS2105091650 Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
RS587777570 Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
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