10:95518462-95518462 T > C

Classification

Category 5 curation
CMH MAF 198 / 11964 samples (1.65%)
196 het., 2 hom. (99%)
200 / 23928 total alleles (0.836%)

gene: LGI1 synonym(s): ADLTE, ADPAEF, ADPEAF, EPITEMPIN, EPT, ETL1, IB1099, LGI1, ENSG00000108231

OMIM
OMIM:604619: LGI1 (Autosomal dominant inheritance)
OMIM:600512: Epilepsy, familial temporal lobe, 1

ENST00000371418.4 [intron]
hgvs_c: ENST00000371418.4:c.216-55T>C
protein sequence: ENSP00000360472.4

rs143132529
GMAF = 0.003395
TOPMED_MAF = 0.00667367482161060

464748
clinvar_significance = Benign_Likely_benign
clinvar_disease = Epilepsy

EVS
EVS MAF (European American/African American/All) = 0.010063,0.001445,0.007450

gnomAD Other non-Finnish European, (31 / 2138), 1.45% curated_classification = 5