Variant (rsID / SNP)
rs61749879
rs61749879 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKBP10. Location: chromosome 17, position 39,977,249. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FKBP10Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:39977249
- Cytoband
- 17q21.2
- HGVS
- NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr)
- Allele change
- Missense_I436T
Associated conditions / phenotypes
Osteogenesis imperfecta type 11|Osteogenesis imperfecta
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
