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STK32B

Synonyms
HSA250839, STK32, STKG6, YANK2
External resources
Summary
This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants.

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
3,304
Likely benign
3,857
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on STK32B gene.

Phenotype class
Patients in 3billion (%)

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