G67E (p.Gly67Glu) variant of DCX (O43602)
G67E (p.Gly67Glu) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes published literature and structural context.
G67E (p.Gly67Glu) variant details
- p.Gly67Glu
- UniProt VAR 026025
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in SBHX)
- UniProt: Pathogenic (in SBHX)
- Structural context available
- Cited in: Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. (PMID 12390976)
- Cited in: A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band… (PMID 10369164)