Variant (rsID / SNP)

rs1339117465

rs1339117465 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,225,143. 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: 2:21225143
Cytoband: 2p24.1
HGVS: NM_000384.3(APOB):c.13151T>C (p.Leu4384Pro)
Allele change: Missense_L4384P

Associated conditions / phenotypes

Hypercholesterolemia, familial, 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.