Variant (rsID / SNP)

rs180874451

rs180874451 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,234,281. Clinical significance in the table: Uncertain significance.

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Reference-table entries

APOBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:21234281
Cytoband: 2p24.1
HGVS: NM_000384.3(APOB):c.5459A>C (p.Lys1820Thr)
Allele change: Missense_K1820T

Associated conditions / phenotypes

Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.