rs104894651

This is a variant in the OTOP2 gene that changes a leucine to an proline.

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ClinVar annotation

Pathogenic

1 submitter1 publication

Usher syndrome type 1G

About OTOP2

Predicted to enable proton channel activity. Predicted to be involved in proton transmembrane transport. Predicted to be located in plasma membrane. Predicted to be active in membrane. [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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