rs2140138203

This variant is located in the ATP11A gene.

ClinVar annotation

Pathogenic
1 submitter1 publication

Leukodystrophy, hypomyelinating, 24

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About ATP11A

The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. [provided by RefSeq, Apr 2022]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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