Variant (rsID / SNP)
rs587776917
rs587776917 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ECEL1. Location: chromosome 2, position 233,350,648. Clinical significance in the table: Pathogenic.
Reference-table entries
ECEL1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 2:233350648
- Cytoband
- 2q37.1
- HGVS
- NM_004826.4(ECEL1):c.716dup (p.Tyr239Ter)
Associated conditions / phenotypes
Distal arthrogryposis type 5D
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.