Variant (rsID / SNP)

rs193922144

rs193922144 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A1. Location: chromosome 17, position 48,269,214. 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: single nucleotide variant
Chromosome / position: 17:48269214
Cytoband: 17q21.33
HGVS: NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter)
Allele change: Nonsense_Q688X

Associated conditions / phenotypes

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.