Variant (rsID / SNP)

rs730880052

rs730880052 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,229,553. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

APOBLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:21229553
Cytoband: 2p24.1
HGVS: NM_000384.3(APOB):c.10187C>A (p.Ala3396Asp)
Allele change: Missense_A3396D

Associated conditions / phenotypes

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.