Variant (rsID / SNP)

rs193922162

rs193922162 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A2. Location: chromosome 7, position 94,047,045. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

COL1A2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:94047045
Cytoband: 7q21.3
HGVS: NM_000089.4(COL1A2):c.1873G>A (p.Gly625Ser)
Allele change: Missense_G625S

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.