V101G (p.Val101Gly) variant of DCX (O43602)
V101G (p.Val101Gly) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lissencephaly type 1 due to doublecortin gene mutation. The record also includes published literature and structural context.
V101G (p.Val101Gly) variant details
- p.Val101Gly
- rs2524858642
- ClinGen CA414246686
- ClinVar RCV002471530
- Likely pathogenic
- Lissencephaly type 1 due to doublecortin gene mutation
- Missense
- ClinVar: Likely pathogenic (Lissencephaly type 1 due to doublecortin gene mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: DCX-Related Disorders. (PMID 20301364)