P352S (p.Pro352Ser) variant of DCX (O43602)
P352S (p.Pro352Ser) 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.
P352S (p.Pro352Ser) variant details
- p.Pro352Ser
- rs2524628032
- ClinGen CA414237416
- ClinVar RCV003320008
- 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)