Variant (rsID / SNP)

rs121918391

rs121918391 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,238,041. 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: 2:21238041
Cytoband: 2p24.1
HGVS: NM_000384.3(APOB):c.3600T>A (p.Tyr1200Ter)
Allele change: Nonsense_Y1200X

Associated conditions / phenotypes

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

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.