rs76129965

This variant is located in the AK8 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About AK8

Enables AMP binding activity and nucleobase-containing compound kinase activity. Predicted to be involved in nucleoside monophosphate phosphorylation. Predicted to act upstream of or within ventricular system development. Located in 9+2 motile cilium. [provided by Alliance of Genome Resources, Apr 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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