Variant (rsID / SNP)

rs202209556

rs202209556 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to P3H1. Location: chromosome 1, position 43,212,966. Clinical significance in the table: Uncertain significance.

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Reference-table entries

P3H1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:43212966
Cytoband: 1p34.2
HGVS: NM_022356.4(P3H1):c.2032C>A (p.Leu678Met)
Allele change: Missense_L678M

Associated conditions / phenotypes

Osteogenesis imperfecta type 8

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.