1:45974001-45974001 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: 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.394C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 543
CDS pos: 394
translation impact: premature_stop
protein sequence: NP_056321.2
AA pos: 132
hgvs_p: NP_056321.2:p.Arg132Ter
blosum: -4

rs121918241
TOPMED_MAF = 0.00003981906218144

1423
clinvar_significance = Pathogenic
clinvar_disease = Methylmalonic acidemia with homocystinuria
clinvar_disease = Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

EVS
EVS MAF (European American/African American/All) = 0.000000,0.000258,0.000083

ExAC South Asian, (12 / 16494), 0.0728%
gnomAD South Asian, (22 / 30600), 0.0719%