Classification
Category 1
CMH MAF
1 /
14969 samples
(0.00668%)
1 het.,
0 hom.
(100%)
1 /
29938 total alleles
(0.00334%)
Genes
gene: ACADVL
synonym(s): ACAD6, LCACD, VLCAD, ACADVL, ENSG00000072778
NM_000018.3
[CDS]
Reportable
hgvs_c: NM_000018.3:c.1748C>G
reference AA: S
variant AA: W
reference codon: tCg
variant codon: tGg
cDNA pos: 1902
CDS pos: 1748
translation impact: non_synonymous
protein sequence:
NP_000009.1
AA pos: 583
hgvs_p: NP_000009.1:p.Ser583Trp
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)
NM_001033859.2
[CDS]
hgvs_c: NM_001033859.2:c.1682C>G
reference AA: S
variant AA: W
reference codon: tCg
variant codon: tGg
cDNA pos: 1836
CDS pos: 1682
translation impact: non_synonymous
protein sequence:
NP_001029031.1
AA pos: 561
hgvs_p: NP_001029031.1:p.Ser561Trp
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)
NM_001270447.1
[CDS]
hgvs_c: NM_001270447.1:c.1817C>G
reference AA: S
variant AA: W
reference codon: tCg
variant codon: tGg
cDNA pos: 1838
CDS pos: 1817
translation impact: non_synonymous
protein sequence:
NP_001257376.1
AA pos: 606
hgvs_p: NP_001257376.1:p.Ser606Trp
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)
NM_001270448.1
[CDS]
hgvs_c: NM_001270448.1:c.1520C>G
reference AA: S
variant AA: W
reference codon: tCg
variant codon: tGg
cDNA pos: 1977
CDS pos: 1520
translation impact: non_synonymous
protein sequence:
NP_001257377.1
AA pos: 507
hgvs_p: NP_001257377.1:p.Ser507Trp
blosum: -3
dbSNP
rs1085307648
TOPMED_MAF = 0.00000796381243628
ClinVar
426482
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Very long chain acyl-CoA dehydrogenase deficiency
gnomAD
gnomAD
Source: Genome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 8646 |
0% |
| America/Latino |
0 / 844 |
0% |
| Ashkenazi Jewish |
0 / 290 |
0% |
| East Asian |
0 / 1552 |
0% |
| Finnish |
0 / 3466 |
0% |
| Non-Finnish |
1 / 15340 |
0.00652% |
| Other |
0 / 1082 |
0% |
| Estonian |
0 / 4532 |
0% |
| North-Western European |
0 / 8570 |
0% |
| Southern European |
0 / 104 |
0% |
| Other non-Finnish European |
1 / 2134 |
0.0469% |
| Total MAF |
1 / 31220 |
0.0032% |
Export Variant