rs144959805

This is a variant in the ACP6 gene that changes a valine to an methionine.

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ClinVar annotation

Pathogenic★☆☆☆
1 submitter1 publication

Cerebral visual impairment and intellectual disability

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About ACP6

This gene encodes a member of the histidine acid phosphatase protein family. The encoded protein hydrolyzes lysophosphatidic acid, which is involved in G protein-coupled receptor signaling, lipid raft modulation, and in balancing lipid composition within the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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