N44T (p.Asn44Thr) variant of COL5A2 (Collagen alpha-2(V) chain)
N44T (p.Asn44Thr) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 1. The record also includes published literature and structural context.
N44T (p.Asn44Thr) variant details
- p.Asn44Thr
- rs2469425510
- ClinGen CA349868729
- ClinVar RCV003031958
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)