A35T (p.Ala35Thr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A35T (p.Ala35Thr) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of NKX2-5-related disorder. The record also includes structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- rs2480080369
- ClinGen CA362163683
- ClinVar RCV003944383
- Uncertain significance
- NKX2-5-related disorder
- Missense
- ClinVar: Uncertain significance (NKX2-5-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available