Variant (rsID / SNP)
rs387906569
rs387906569 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,227,323. Clinical significance in the table: Pathogenic.
Reference-table entries
APOBPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 2:21227323
- Cytoband
- 2p24.1
- HGVS
- NM_000384.2(APOB):c.11905del
Associated conditions / phenotypes
Familial hypobetalipoproteinemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.