Variant (rsID / SNP)

rs6700677

rs6700677 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to P3H1. Location: chromosome 1, position 43,223,489. 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: 1:43223489
Cytoband: 1p34.2
HGVS: NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg)
Allele change: Missense_G349R

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.