Variant (rsID / SNP)

rs193922143

rs193922143 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A1. Location: chromosome 17, position 48,270,364. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

COL1A1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 17:48270364
Cytoband: 17q21.33
HGVS: NM_000088.4(COL1A1):c.1812del (p.Gly605fs)

Associated conditions / phenotypes

Osteogenesis imperfecta|Osteogenesis imperfecta type I

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.