L118V (p.Leu118Val) variant of DLG4 (Disks large homolog 4)
L118V (p.Leu118Val) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual developmental disorder 62. The record also includes published literature.
L118V (p.Leu118Val) variant details
- p.Leu118Val
- rs762793313
- ClinGen CA397719720
- ClinVar RCV002472178
- Uncertain significance
- Intellectual developmental disorder 62
- Missense
- ClinVar: Uncertain significance (Intellectual developmental disorder 62)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: DLG4-Related Synaptopathy. (PMID 37347881)