rs373843574
This variant is located in the STK32B gene.
▶ClinVar annotation
About STK32B
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. [provided by RefSeq, Sep 2016]
View all STK32B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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