R19S (p.Arg19Ser) variant of MFN2 (Mitofusin-2)
R19S (p.Arg19Ser) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease type 2. The record also includes published literature and structural context.
R19S (p.Arg19Ser) variant details
- p.Arg19Ser
- rs2522961692
- ClinGen CA338459393
- ClinVar RCV003821274
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)