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ALPK1

Synonyms
8430410J10Rik, LAK, ROSAH
External resources
Summary
This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene.

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
1,997
Likely benign
1,597
Benign
4,157

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ALPK1 gene.

Phenotype class
Patients in 3billion (%)

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