P179H (p.Pro179His) variant of DCX (O43602)
P179H (p.Pro179His) 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.
P179H (p.Pro179His) variant details
- p.Pro179His
- rs2524835526
- ClinGen CA414246146
- ClinVar RCV003128099
- cosmic curated COSV10057
- 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)