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Variant (rsID / SNP)

rs149561221

COL1A1

rs149561221 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A1. Location: chromosome 17, position 48,270,160. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL1A1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
17:48270160
Cytoband
17q21.33
HGVS
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)
Allele change
Missense_A625T

Associated conditions / phenotypes

Osteogenesis imperfecta|Infantile cortical hyperostosis|Ehlers-Danlos syndrome, arthrochalasis type|Osteogenesis imperfecta type I|Ehlers-Danlos syndrome

Public references

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