1:11291348-11291348 G > A

Classification

Category 4 curation
CMH MAF 27 / 11992 samples (0.225%)
27 het., 0 hom. (100%)
27 / 23984 total alleles (0.113%)

gene: MTOR synonym(s): FRAP, FRAP1, FRAP2, RAFT1, RAPT1, MTOR, ENSG00000198793

OMIM
OMIM:601231: MTOR
OMIM:607341: Focal cortical dysplasia, type II, somatic
OMIM:616638: Smith-Kingsmore syndrome

NM_004958.3 [intron]
hgvs_c: NM_004958.3:c.2649+9C>T
splice impact: five_prime_intronic
protein sequence: NP_004949.1

rs144243347
GMAF = 0.004393
TOPMED_MAF = 0.00409339959225280

414894
clinvar_significance = Benign

EVS
EVS MAF (European American/African American/All) = 0.000000,0.015207,0.005151

ExAC African, (150 / 10404), 1.44%
gnomAD African, (370 / 24948), 1.48% curated_classification = 4