Variant (rsID / SNP)

rs72659351

rs72659351 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to P3H1. Location: chromosome 1, position 43,223,453. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

P3H1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:43223453
Cytoband: 1p34.2
HGVS: NM_022356.4(P3H1):c.1080+1G>T
Allele change: Silent

Associated conditions / phenotypes

Osteogenesis imperfecta type 8|Osteogenesis imperfecta

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.