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Variant (rsID / SNP)

rs143282164

APOB

rs143282164 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,236,070. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

APOBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:21236070
Cytoband
2p24.1
HGVS
NM_000384.3(APOB):c.4178C>T (p.Ala1393Val)
Allele change
Missense_A1393V

Associated conditions / phenotypes

Hypercholesterolemia, familial, 1|Familial hypercholesterolemia|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.