A68T (p.Ala68Thr) variant of APOB (Apolipoprotein B-100)
A68T (p.Ala68Thr) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem. The record also includes published literature and structural context.
A68T (p.Ala68Thr) variant details
- p.Ala68Thr
- rs1558577786
- ClinGen CA345965081
- ClinVar RCV000772241
- ClinVar RCV005209524
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinem
- Missense
- ClinVar: Uncertain significance (Hypercholesterolemia, autosomal dominant, type B; Familial hypob)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)