1:100671780-100671780 A > C

Classification

Category 4 curation
CMH MAF 382 / 13850 samples (2.76%)
350 het., 32 hom. (91.6%)
414 / 27700 total alleles (1.49%)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron]

gene: DBT synonym(s): BCATE2, BCKAD-E2, BCKADE2, E2, E2B, DBT, ENSG00000137992

OMIM
OMIM:248610: DBT (Autosomal recessive inheritance)
OMIM:248600: Maple syrup urine disease, type II

ENST00000370132.4 [intron]
hgvs_c: ENST00000370132.4:c.1281+6T>G
splice impact: five_prime_flank
protein sequence: ENSP00000359151.3

rs140115881
GMAF = 0.01737
TOPMED_MAF = 0.01124490316004077

93990
clinvar_significance = Benign_Likely_benign
clinvar_disease = Maple syrup urine disease

EVS
EVS MAF (European American/African American/All) = 0.001047,0.001589,0.001230

ExAC America/Latino, (2090 / 11564), 18.1%
gnomAD America/Latino, (5920 / 35344), 16.7% curated_classification = 4