Variant (rsID / SNP)
rs144467873
rs144467873 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,229,161. 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
- 2:21229161
- Cytoband
- 2p24.1
- HGVS
- NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)
- Allele change
- Missense_R3527W
Associated conditions / phenotypes
Hypercholesterolemia, autosomal dominant, type B|Hypercholesterolemia, familial, 1|Familial hypercholesterolemia|Homozygous familial hypercholesterolemia|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B|APOB-related disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.