Variant (rsID / SNP)

rs141387386

rs141387386 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKBP10. Location: chromosome 17, position 39,975,704. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FKBP10Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:39975704
Cytoband: 17q21.2
HGVS: NM_021939.4(FKBP10):c.917+53G>T
Allele change: Silent

Associated conditions / phenotypes

Osteogenesis imperfecta type 11

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.