Variant (rsID / SNP)

rs281865425

rs281865425 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,234,474. Clinical significance in the table: Pathogenic.

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Reference-table entries

APOBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 2:21234474
Cytoband: 2p24.1
HGVS: NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs)

Associated conditions / phenotypes

Familial hypobetalipoproteinemia|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.