Variant (rsID / SNP)

rs187506285

rs187506285 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,242,745. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

APOBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:21242745
Cytoband: 2p24.1
HGVS: NM_000384.3(APOB):c.2849C>T (p.Thr950Met)
Allele change: Missense_T950M

Associated conditions / phenotypes

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