rs774054101

This variant is located in the MYO1H gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About MYO1H

Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in actin filament organization; actin filament-based movement; and endocytosis. Predicted to be part of myosin complex. Predicted to be active in several cellular components, including actin cytoskeleton; microvillus; and plasma membrane. Implicated in congenital central hypoventilation syndrome. [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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