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Variant (rsID / SNP)

rs766243954

APOB

rs766243954 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,260,958. 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
2:21260958
Cytoband
2p24.1
HGVS
NM_000384.3(APOB):c.409G>T (p.Glu137Ter)
Allele change
Nonsense_E137X

Associated conditions / phenotypes

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.