1:21554554-21554554 A > C

Classification

Category 4 curation
CMH MAF 195 / 11967 samples (1.63%)
195 het., 0 hom. (100%)
195 / 23934 total alleles (0.815%)

gene: ECE1 synonym(s): ECE, ECE1, ENSG00000117298

OMIM
OMIM:600423: ECE1 (Autosomal dominant inheritance)
OMIM:613870: ?Hirschsprung disease, cardiac defects, and autonomic dysfunction
OMIM:145500: {Hypertension, essential, susceptibility to}

NM_001397.2 [intron]
hgvs_c: NM_001397.2:c.1671-20T>G
protein sequence: NP_001388.1

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

TRNAN-GUU [intron]

rs886038483
rs190487320
GMAF = 0.001597
TOPMED_MAF = 0.00537557339449541

258086
clinvar_significance = Likely_benign

EVS
EVS MAF (European American/African American/All) = 0.002577,0.001143,0.002091

ExAC Non-Finnish, (82 / 9636), 0.851%
gnomAD North-Western European, (426 / 44974), 0.947% curated_classification = 4