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Variant (rsID / SNP)

rs1382988295

APOB

rs1382988295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,229,558. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

APOBPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:21229558
Cytoband
2p24.1
HGVS
NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn)
Allele change
Missense_K3394N

Associated conditions / phenotypes

Hypercholesterolemia, familial, 1|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.