Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs117672175

COL1A1

rs117672175 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL1A1. Location: chromosome 17, position 48,267,238. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

COL1A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:48267238
Cytoband
17q21.33
HGVS
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=)
Allele change
Synonymous_R865R

Associated conditions / phenotypes

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