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Variant (rsID / SNP)

rs183950016

APOB

rs183950016 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,247,843. 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
2:21247843
Cytoband
2p24.1
HGVS
NM_000384.3(APOB):c.2398C>A (p.Leu800Met)
Allele change
Missense_L800M

Associated conditions / phenotypes

Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 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.