Variant (rsID / SNP)

rs72659319

rs72659319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A2. Location: chromosome 7, position 94,055,771. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL1A2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:94055771
Cytoband: 7q21.3
HGVS: NM_000089.4(COL1A2):c.3034G>C (p.Gly1012Arg)
Allele change: Missense_G1012R

Associated conditions / phenotypes

Osteogenesis imperfecta with normal sclerae, dominant form

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.