Variant (rsID / SNP)
rs387906585
rs387906585 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTC1. Location: chromosome 15, position 35,085,670. Clinical significance in the table: Pathogenic.
Reference-table entries
ACTC1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 15:35085670
- Cytoband
- 15q14
- HGVS
- NM_005159.5(ACTC1):c.215_231del (p.Pro72fs)
Associated conditions / phenotypes
Atrial septal defect 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.