F1888C (p.Phe1888Cys) variant of MTOR (P42345)
F1888C (p.Phe1888Cys) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy. The record also includes published literature and structural context.
F1888C (p.Phe1888Cys) variant details
- p.Phe1888Cys
- rs869312666
- ClinGen CA353438
- ClinVar RCV000209915
- ClinVar RCV000523811
- Pathogenic/Likely pathogenic
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Macrocephaly-intellectual disability-neurodevelopmental disorder)
- EBI: Pathogenic (in SKS)
- UniProt: Pathogenic (in SKS)
- Structural context available
- Cited in: Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. (PMID 27830187)
- Cited in: Smith-Kingsmore Syndrome. (PMID 41264764)