Variant (rsID / SNP)

rs144336336

rs144336336 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to P3H1. Location: chromosome 1, position 43,213,903. 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: 1:43213903
Cytoband: 1p34.2
HGVS: NM_022356.4(P3H1):c.1806A>C (p.Lys602Asn)
Allele change: Missense_K602N

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.