rs200163437

This variant is located in the EHD3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About EHD3

Predicted to enable nucleic acid binding activity. Involved in several processes, including cytosolic transport; endocytic recycling; and protein homooligomerization. Acts upstream of or within protein localization to plasma membrane and regulation of cardiac muscle cell membrane potential. Located in ciliary pocket membrane and recycling endosome 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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