S30R (p.Ser30Arg) variant of SPG7 (Q9UQ90)
S30R (p.Ser30Arg) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 7. The record also includes published literature and structural context.
S30R (p.Ser30Arg) variant details
- p.Ser30Arg
- rs2543661779
- ClinGen CA397415967
- ClinVar RCV003618172
- Uncertain significance
- Hereditary spastic paraplegia 7
- Missense
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)