Variant (rsID / SNP)
rs587779653
rs587779653 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,867,764. Clinical significance in the table: Pathogenic.
Reference-table entries
COL3A1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 2:189867764
- Cytoband
- 2q32.2
- HGVS
- NM_000090.4(COL3A1):c.2534dup (p.Gly846fs)
Associated conditions / phenotypes
Ehlers-Danlos syndrome, type 4
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.