Variant (rsID / SNP)

rs121918383

rs121918383 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,236,251. Clinical significance in the table: Pathogenic.

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Reference-table entries

APOBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:21236251
Cytoband: 2p24.1
HGVS: NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter)
Allele change: Nonsense_R1333X

Associated conditions / phenotypes

Familial hypobetalipoproteinemia|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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