G100R (p.Gly100Arg) variant of DCX (O43602)
G100R (p.Gly100Arg) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes published literature and structural context.
G100R (p.Gly100Arg) variant details
- p.Gly100Arg
- rs2524858685
- ClinGen CA414246693
- ClinVar RCV002290137
- cosmic curated COSV57571
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic (in LISX1 and SBHX)
- UniProt: Likely pathogenic (in LISX1 and SBHX)
- Structural context available
- Cited in: DCX-Related Disorders. (PMID 20301364)