A510L (p.Ala510Leu) variant of SPG7 (Q9UQ90)
A510L (p.Ala510Leu) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Spastic Paraplegia, Recessive; Mitochondrial DNA maintenance disorder; Possible. The record also includes published literature.
A510L (p.Ala510Leu) variant details
- p.Ala510Leu
- rs2152409901
- ClinGen CA2499223804
- ClinVar RCV001391521
- Ensembl rs2152409901
- Pathogenic
- Spastic Paraplegia, Recessive; Mitochondrial DNA maintenance disorder; Possible
- Missense
- ClinVar: Pathogenic (Hereditary spastic paraplegia 7)
- EBI: Pathogenic (in SPG7)
- UniProt: Pathogenic (in SPG7)
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)