M1I (p.Met1Ile) variant of SPG7 (Q9UQ90)
M1I (p.Met1Ile) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hereditary spastic paraplegia 7. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2543660604
- ClinVar RCV004585107
- ClinVar RCV004818487
- Likely pathogenic
- not provided; Hereditary spastic paraplegia 7
- Missense
- ClinVar: Likely pathogenic (not provided; Hereditary spastic paraplegia 7)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)