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INPP5B

Synonyms
5PTase
External resources
Summary
This gene encodes a member of a family of inositol polyphosphate-5-phosphatases. These enzymes function in the regulation of calcium signaling by inactivating inositol phosphates. The encoded protein is localized to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near the C-terminus. Alternatively spliced transcript variants of this gene have been described.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
15,425
Likely benign
3,815
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on INPP5B gene.

Phenotype class
Patients in 3billion (%)

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