Variant (rsID / SNP)
rs869320752
rs869320752 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKBP10. Location: chromosome 17, position 39,975,611. Clinical significance in the table: Pathogenic.
Reference-table entries
FKBP10Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 17:39975611
- Cytoband
- 17q21.2
- HGVS
- NM_021939.4(FKBP10):c.877_879del (p.Tyr293del)
Associated conditions / phenotypes
Bruck syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.