Variant (rsID / SNP)

rs118203996

rs118203996 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to P3H1. Location: chromosome 1, position 43,221,287. Clinical significance in the table: Pathogenic.

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Reference-table entries

P3H1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:43221287
Cytoband: 1p34.2
HGVS: NM_022356.4(P3H1):c.1102C>T (p.Arg368Ter)
Allele change: Nonsense_R368X

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.