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Variant (rsID / SNP)

rs55716016

P3H1

rs55716016 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to P3H1. Location: chromosome 1, position 43,232,504. 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
1:43232504
Cytoband
1p34.2
HGVS
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser)
Allele change
Missense_A47S

Associated conditions / phenotypes

Osteogenesis imperfecta type 8|Osteogenesis Imperfecta, Recessive|Osteogenesis imperfecta

Public references

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