Gene entry
KIAA0586
KIAA0586
- Chromosome
- 14
- Cytoband
- 14q23.1
- Variants (rsID)
- 11
KIAA0586 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q23.1). Its official name is “KIAA0586”. The reference table lists 11 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs190271845Benignsingle nucleotide variantJoubert syndrome 23|Short-rib thoracic dysplasia 14 with polydactyly
- rs770566897PathogenicDeletionJoubert syndrome 23|Congenital cerebellar hypoplasia|Intellectual disability|Rod-cone dystrophy|Neurodevelopmental disorder|Joubert syndrome 23|Short-rib thoracic dysplasia 14 with polydactyly
- rs28535751Not classifiedmissense_variantSilent
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.