Variant (rsID / SNP)

rs533729683

rs533729683 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to P3H1. Location: chromosome 1, position 43,212,427. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

P3H1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:43212427
Cytoband: 1p34.2
HGVS: NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala)
Allele change: Silent

Associated conditions / phenotypes

Osteogenesis imperfecta type 8|Osteogenesis Imperfecta, Recessive

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.