rs367878173

This variant is located in the TMEM63A gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

Inborn genetic diseases

About TMEM63A

Enables mechanosensitive monoatomic ion channel activity. Predicted to be involved in surfactant secretion. Located in bounding membrane of organelle; centriolar satellite; and plasma membrane. Implicated in hypomyelinating leukodystrophy 19. [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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