Variant (rsID / SNP)

rs185224477

rs185224477 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,230,292. 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: 2:21230292
Cytoband: 2p24.1
HGVS: NM_000384.3(APOB):c.9448T>C (p.Phe3150Leu)
Allele change: Missense_F3150L

Associated conditions / phenotypes

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.