Variant (rsID / SNP)

rs72658176

rs72658176 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A2. Location: chromosome 7, position 94,049,916. 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: 7:94049916
Cytoband: 7q21.3
HGVS: NM_000089.4(COL1A2):c.2251G>A (p.Gly751Ser)
Allele change: Missense_G751S

Associated conditions / phenotypes

Osteogenesis imperfecta type III|Ehlers-Danlos syndrome, classic type, 1|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.