Variant (rsID / SNP)
rs397509377
rs397509377 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,851,815. Clinical significance in the table: Pathogenic.
Reference-table entries
COL3A1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 2:189851815
- Cytoband
- 2q32.2
- HGVS
- NM_000090.4(COL3A1):c.479dup (p.Lys161fs)
Associated conditions / phenotypes
Polymicrogyria with or without vascular-type ehlers-danlos syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.