H31Q (p.His31Gln) variant of MFN2 (Mitofusin-2)
H31Q (p.His31Gln) 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.
H31Q (p.His31Gln) variant details
- p.His31Gln
- rs2522962020
- ClinGen CA338459599
- ClinVar RCV003582842
- 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)