Variant (rsID / SNP)

rs193922149

rs193922149 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A1. Location: chromosome 17, position 48,267,689. 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: 17:48267689
Cytoband: 17q21.33
HGVS: NM_000088.4(COL1A1):c.2450del (p.Pro817fs)

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.