rs1646995102

This variant is located in the KIF1B gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Charcot-Marie-Tooth disease type 2; not specified

About KIF1B

Enables plus-end-directed microtubule motor activity. Involved in apoptotic process involved in development and mitochondrion transport along microtubule. Is active in mitochondrion. Implicated in Charcot-Marie-Tooth disease type 2A1; hepatocellular carcinoma; multiple sclerosis; neuroblastoma; and ovary epithelial cancer. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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