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Variant (rsID / SNP)

rs368278927

APOB

rs368278927 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,229,040. 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
2:21229040
Cytoband
2p24.1
HGVS
NM_000384.3(APOB):c.10700C>T (p.Thr3567Met)
Allele change
Missense_T3567M

Associated conditions / phenotypes

Hypercholesterolemia, familial, 1|Familial hypercholesterolemia|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.