Variant (rsID / SNP)

rs193922168

rs193922168 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A2. Location: chromosome 7, position 94,057,026. 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: 7:94057026
Cytoband: 7q21.3
HGVS: NM_000089.4(COL1A2):c.3355G>C (p.Ala1119Pro)
Allele change: Missense_A1119P

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.