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Variant (rsID / SNP)

rs1800219

COL1A1

rs1800219 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A1. Location: chromosome 17, position 48,263,208. 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
17:48263208
Cytoband
17q21.33
HGVS
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)
Allele change
Synonymous_S1393S

Associated conditions / phenotypes

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