1:76226906-76226906 C > T

Classification

Category 1
CMH MAF 1 / 14969 samples (0.00668%)
1 het., 0 hom. (100%)
1 / 29938 total alleles (0.00334%)

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

TRNAN-GUU [intron]

gene: ACADM synonym(s): ACAD1, MCAD, MCADH, ACADM, ENSG00000117054

OMIM
OMIM:607008: ACADM (Autosomal recessive inheritance)
OMIM:201450: Acyl-CoA dehydrogenase, medium chain, deficiency of

NM_000016.4 [CDS]
hgvs_c: NM_000016.4:c.1045C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 1475
CDS pos: 1045
translation impact: premature_stop
protein sequence: NP_000007.1
AA pos: 349
hgvs_p: NP_000007.1:p.Arg349Ter
blosum: -4

rs148207467
GMAF = 0.0001997
TOPMED_MAF = 0.00000796381243628

189016
clinvar_significance = Pathogenic_Likely_pathogenic
clinvar_disease = Medium-chain acyl-coenzyme A dehydrogenase deficiency

EVS
EVS MAF (European American/African American/All) = 0.000000,0.000227,0.000077

ExAC African, (1 / 10404), 0.00961%
COSMIC Mutation ID = COSV63720301
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD African, (1 / 24970), 0.004%