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.335del
reference AA: R
variant AA: X
reference codon: cgT
variant codon: cg
cDNA pos: 487
CDS pos: 333
translation impact: frameshift
protein sequence:
NP_000009.1
AA pos: 111
hgvs_p: NP_000009.1:p.Phe112SerfsTer5
blosum: -1
NM_001033859.2
[CDS]
hgvs_c: NM_001033859.2:c.269del
reference AA: R
variant AA: X
reference codon: cgT
variant codon: cg
cDNA pos: 421
CDS pos: 267
translation impact: frameshift
protein sequence:
NP_001029031.1
AA pos: 89
hgvs_p: NP_001029031.1:p.Phe90SerfsTer5
blosum: -1
NM_001270447.1
[CDS]
hgvs_c: NM_001270447.1:c.404del
reference AA: R
variant AA: X
reference codon: cgT
variant codon: cg
cDNA pos: 423
CDS pos: 402
translation impact: frameshift
protein sequence:
NP_001257376.1
AA pos: 134
hgvs_p: NP_001257376.1:p.Phe135SerfsTer5
blosum: -1
NM_001270448.1
[CDS]
hgvs_c: NM_001270448.1:c.107del
reference AA: R
variant AA: X
reference codon: cgT
variant codon: cg
cDNA pos: 562
CDS pos: 105
translation impact: frameshift
protein sequence:
NP_001257377.1
AA pos: 35
hgvs_p: NP_001257377.1:p.Phe36SerfsTer5
blosum: -1
dbSNP
rs764028320
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000363,0.000000,0.000240
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 24950 |
0% |
| America/Latino |
0 / 35432 |
0% |
| Ashkenazi Jewish |
0 / 10360 |
0% |
| East Asian |
0 / 19952 |
0% |
| Finnish |
0 / 25124 |
0% |
| Non-Finnish |
2 / 129070 |
0.00155% |
| Other |
0 / 7226 |
0% |
| South Asian |
0 / 30610 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2670 |
0% |
| Estonian |
1 / 4832 |
0.0207% |
| North-Western European |
0 / 50738 |
0% |
| Southern European |
0 / 11608 |
0% |
| Swedish |
1 / 26128 |
0.00383% |
| Other non-Finnish European |
0 / 33094 |
0% |
| Total MAF |
2 / 282724 |
0.000707% |
Export Variant