Variant (rsID / SNP)

rs72653099

rs72653099 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,230,514. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

APOBBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:21230514
Cytoband: 2p24.1
HGVS: NM_000384.3(APOB):c.9226C>A (p.Leu3076Met)
Allele change: Missense_L3076M

Associated conditions / phenotypes

Familial hypercholesterolemia|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.