Classification

Category 1

ClinVar pathogenic variant

CMH MAF

1 / 13810 samples (0.00724%)
1 het., 0 hom. (100%)
1 / 27620 total alleles (0.00362%)

Genes

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

TRNAN-GUU [intron] Reportable

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

NM_000016.4 [intron] Reportable
hgvs_c: NM_000016.4:c.849+1G>A
splice impact: donor_site
protein sequence: NP_000007.1

NM_001127328.1 [intron]
hgvs_c: NM_001127328.1:c.861+1G>A
protein sequence: NP_001120800.1

dbSNP

rs878853106

ClinVar

235753
clinvar_significance = Pathogenic

Export Variant

Curation

Pathogenic