Variant (rsID / SNP)

rs143301836

rs143301836 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,260,034. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

APOBLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:21260034
Cytoband: 2p24.1
HGVS: NM_000384.3(APOB):c.631C>T (p.Gln211Ter)
Allele change: Missense_Q211K

Associated conditions / phenotypes

Hypobetalipoproteinemia|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.