C1483R (p.Cys1483Arg) variant of MTOR (P42345)
C1483R (p.Cys1483Arg) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p. The record also includes published literature and structural context.
C1483R (p.Cys1483Arg) variant details
- p.Cys1483Arg
- rs1057519914
- ClinGen CA16602264
- NCI-TCGA Cosmic COSV6387
- ClinVar RCV000494705
- Pathogenic
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p
- Missense
- ClinVar: Pathogenic (Overgrowth syndrome and/or cerebral malformations due to abnorma)
- EBI: Pathogenic (in FCORD2)
- UniProt: Pathogenic (in FCORD2)
- Structural context available
- Cited in: Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. (PMID 25799227)
- Cited in: Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. (PMID 25878179)