Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs11581921

P3H1

rs11581921 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to P3H1. Location: chromosome 1, position 43,215,930. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

P3H1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:43215930
Cytoband
1p34.2
HGVS
NM_022356.4(P3H1):c.1647G>A (p.Met549Ile)
Allele change
Missense_M549I

Associated conditions / phenotypes

Osteogenesis imperfecta type 8|Osteogenesis Imperfecta, Recessive

Public references

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