1:76226829-76226829 T > C

Classification

Category 1 curation
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.968T>C
reference AA: L
variant AA: P
reference codon: cTg
variant codon: cCg
cDNA pos: 1398
CDS pos: 968
translation impact: non_synonymous
protein sequence: NP_000007.1
AA pos: 323
hgvs_p: NP_000007.1:p.Leu323Pro
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.999)

rs1272628215
TOPMED_MAF = 0.00000796381243628
curated_classification = 1