Variant (rsID / SNP)
rs528302390
rs528302390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PKD1L1. Location: chromosome 7, position 47,870,812. Clinical significance in the table: Pathogenic.
Reference-table entries
PKD1L1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 7:47870812
- Cytoband
- 7p12.3
- HGVS
- NM_138295.5(PKD1L1):c.6473+2_6473+3del
Associated conditions / phenotypes
Situs inversus|Heterotaxy, visceral, 8, autosomal
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.