A39T (p.Ala39Thr) variant of FBN1 (Fibrillin-1)
A39T (p.Ala39Thr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- rs2505821961
- ClinGen CA392453617
- ClinVar RCV003994867
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (found in a patient with Marfan-like syndrome)
- UniProt: Uncertain significance (found in a patient with Marfan-like syndrome)