Classification
Category 1
CMH MAF
3 /
13144 samples
(0.0228%)
3 het.,
0 hom.
(100%)
3 /
26288 total alleles
(0.0114%)
Genes
gene: ALOX12B
synonym(s): 12R-LOX, ARCI2, ALOX12B, ENSG00000179477
NM_001139.2
[CDS]
Reportable
hgvs_c: NM_001139.2:c.1207C>T
reference AA: H
variant AA: Y
reference codon: Cac
variant codon: Tac
cDNA pos: 1468
CDS pos: 1207
translation impact: non_synonymous
protein sequence:
NP_001130.1
AA pos: 403
hgvs_p: NP_001130.1:p.His403Tyr
blosum: 2
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.989)
dbSNP
rs397514531
ClinVar
39543
clinvar_significance = Pathogenic
clinvar_disease = Autosomal recessive congenital ichthyosis 2
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10210 |
0% |
| America/Latino |
1 / 11412 |
0.00876% |
| East Asian |
0 / 8602 |
0% |
| Finnish |
0 / 6280 |
0% |
| Non-Finnish |
0 / 65430 |
0% |
| Other |
0 / 878 |
0% |
| South Asian |
0 / 16220 |
0% |
| Total MAF |
1 / 119032 |
0.00084% |
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 16226 |
0% |
| America/Latino |
2 / 34552 |
0.00579% |
| Ashkenazi Jewish |
0 / 10066 |
0% |
| East Asian |
0 / 18382 |
0% |
| Finnish |
0 / 21624 |
0% |
| Non-Finnish |
0 / 113376 |
0% |
| Other |
0 / 6132 |
0% |
| South Asian |
0 / 30606 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14412 |
0% |
| Bulgarian |
0 / 2664 |
0% |
| Estonian |
0 / 238 |
0% |
| North-Western European |
0 / 42094 |
0% |
| Southern European |
0 / 11482 |
0% |
| Swedish |
0 / 26082 |
0% |
| Other non-Finnish European |
0 / 30816 |
0% |
| Total MAF |
2 / 250964 |
0.000797% |
Export Variant
Curation
Likely pathogenic