Variant (rsID / SNP)
rs770566897
rs770566897 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIAA0586. Location: chromosome 14, position 58,910,790. Clinical significance in the table: Pathogenic.
Reference-table entries
KIAA0586Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 14:58910790
- Cytoband
- 14q23.1
- HGVS
- NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs)
Associated conditions / phenotypes
Joubert syndrome 23|Congenital cerebellar hypoplasia|Intellectual disability|Rod-cone dystrophy|Neurodevelopmental disorder|Joubert syndrome 23|Short-rib thoracic dysplasia 14 with polydactyly
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.