rs104894652

This is a stop gained variant in the OTOP2 gene.

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ClinVar annotation

Pathogenic★☆☆☆

2 submitters4 publications

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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