Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

VRK1

VRK serine/threonine kinase 1

Chromosome
14
Cytoband
14q32.2
Variants (rsID)
20

VRK1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q32.2). Its official name is “VRK serine/threonine kinase 1”. The reference table lists 20 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

4 reference-table entries with clinical significance.

  • rs772731615Conflicting interpretationssingle nucleotide variantPontocerebellar hypoplasia type 1A|Congenital pontocerebellar hypoplasia type 1|Juvenile amyotrophic lateral sclerosis
  • rs137853063Pathogenicsingle nucleotide variantPontocerebellar hypoplasia type 1A|Multiple congenital anomalies|Inborn genetic diseases|Congenital pontocerebellar hypoplasia type 1|Abnormality of the musculature
  • rs371295780Pathogenicsingle nucleotide variantPontocerebellar hypoplasia type 1A|Congenital pontocerebellar hypoplasia type 1
  • rs144600646Uncertain significancesingle nucleotide variantCongenital pontocerebellar hypoplasia type 1|Pontocerebellar hypoplasia type 1A|Distal spinal muscular atrophy

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.