Variant (rsID / SNP)

rs201368319

rs201368319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,260,981. 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: 2:21260981
Cytoband: 2p24.1
HGVS: NM_000384.3(APOB):c.386A>G (p.Tyr129Cys)
Allele change: Missense_Y129C

Associated conditions / phenotypes

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

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.