Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs34764749

FKBP10

rs34764749 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FKBP10. Location: chromosome 17, position 39,974,642. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

FKBP10Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:39974642
Cytoband
17q21.2
HGVS
NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg)
Allele change
Missense_K197R

Associated conditions / phenotypes

Osteogenesis imperfecta type 11

Public references

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