1:45974520-45974520 G > A

Classification

Category 1
CMH MAF 10 / 14969 samples (0.0668%)
10 het., 0 hom. (100%)
10 / 29938 total alleles (0.0334%)

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

TRNAN-GUU [intron]

gene: MMACHC synonym(s): cblC, RP11-291L19.3, MMACHC, ENSG00000132763

OMIM
OMIM:609831: MMACHC (Autosomal recessive inheritance)
OMIM:277400: Methylmalonic aciduria and homocystinuria, cblC type

NM_015506.2 [CDS]
hgvs_c: NM_015506.2:c.482G>A
reference AA: R
variant AA: Q
reference codon: cGa
variant codon: cAa
cDNA pos: 631
CDS pos: 482
translation impact: non_synonymous
protein sequence: NP_056321.2
AA pos: 161
hgvs_p: NP_056321.2:p.Arg161Gln
blosum: 1
SIFT: deleterious (0.03)
PolyPhen2: probably_damaging (0.913)

rs121918243
TOPMED_MAF = 0.00011149337410805

1425
clinvar_significance = Pathogenic
clinvar_disease = Inborn genetic diseases
clinvar_disease = Methylmalonic acidemia with homocystinuria
clinvar_disease = Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

EVS
EVS MAF (European American/African American/All) = 0.000000,0.000250,0.000081

ExAC America/Latino, (15 / 11468), 0.131%
gnomAD America/Latino, (40 / 35348), 0.113%