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Variant (rsID / SNP)

rs12713843

APOB

rs12713843 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,238,367. 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
2:21238367
Cytoband
2p24.1
HGVS
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)
Allele change
Missense_R1128H

Associated conditions / phenotypes

Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, familial, 1|Familial hypercholesterolemia|Primary familial dilated cardiomyopathy|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B

Public references

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