1:21564631-21564631 C > T

Classification

Category 4 curation
CMH MAF 125 / 13144 samples (0.951%)
125 het., 0 hom. (100%)
125 / 26288 total alleles (0.476%)

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 [CDS]
hgvs_c: NM_001397.2:c.1385G>A
reference AA: S
variant AA: N
reference codon: aGc
variant codon: aAc
cDNA pos: 1460
CDS pos: 1385
translation impact: non_synonymous
protein sequence: NP_001388.1
AA pos: 462
hgvs_p: NP_001388.1:p.Ser462Asn
blosum: 1
SIFT: tolerated (0.45)
PolyPhen2: benign (0.0)

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

TRNAN-GUU [intron]

rs141146885
GMAF = 0.002196
TOPMED_MAF = 0.00382262996941896

258083
clinvar_significance = Benign_Likely_benign

EVS
EVS MAF (European American/African American/All) = 0.003953,0.000908,0.002922

ExAC Non-Finnish, (282 / 66482), 0.424%
gnomAD North-Western European, (315 / 50812), 0.62% curated_classification = 4