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Variant (rsID / SNP)

rs72645357

COL1A1

rs72645357 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A1. Location: chromosome 17, position 48,273,524. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL1A1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:48273524
Cytoband
17q21.33
HGVS
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)
Allele change
Missense_G332R

Associated conditions / phenotypes

Osteogenesis imperfecta type III|Osteogenesis imperfecta|Osteogenesis imperfecta with normal sclerae, dominant form|Osteogenesis imperfecta type I|7 conditions

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.