Variant (rsID / SNP)

rs200184366

rs200184366 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,229,152. 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: 2:21229152
Cytoband: 2p24.1
HGVS: NM_000384.3(APOB):c.10588G>A (p.Val3530Met)
Allele change: Missense_V3530M

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.