RHEB, Ras homolog, mTORC1 binding, 6009

N. diseases: 53; N. variants: 3
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519950
rs1057519950
Entrez Id: 6009
Gene Symbol: RHEB
RHEB
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.010 GeneticVariation BEFREE Here, we carried out whole exome sequencing and targeted sequencing in paired brain-blood DNA from patients with FCDII and identified a brain somatic doublet mutation c.(A104T, C105A) in the Ras homolog, mTORC1 binding (RHEB) gene, which led to the RHEB p.Y35L mutation in one patient with FCDII. 31337748 2019