Variant (rsID / SNP)
rs2163204
rs2163204 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,231,387. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
APOBConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:21231387
- Cytoband
- 2p24.1
- HGVS
- NM_000384.3(APOB):c.8353A>C (p.Asn2785His)
- Allele change
- Missense_N2785H
Associated conditions / phenotypes
Hypercholesterolemia, familial, 1|Familial hypobetalipoproteinemia 1|Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.