Classification
Category 1
ClinVar pathogenic variant
CMH MAF
1 /
8745 samples
(0.0114%)
1 het.,
0 hom.
(100%)
1 /
17490 total alleles
(0.00572%)
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
clinvar_submission_scv = SCV000281578.1
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