Classification
Category 3
non_synonymous
CMH MAF
2 /
13144 samples
(0.0152%)
2 het.,
0 hom.
(100%)
2 /
26288 total alleles
(0.00761%)
Genes
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
gene: DDOST
synonym(s): AGER1, CDG1R, OKSWcl45, OST, OST48, WBP1, DDOST, ENSG00000244038
ENST00000375048.3
[CDS]
Reportable
hgvs_c: ENST00000375048.3:c.601G>A
reference AA: G
variant AA: R
reference codon: Ggg
variant codon: Agg
cDNA pos: 707
CDS pos: 601
splice impact: five_prime_exonic
translation impact: non_synonymous
protein sequence:
ENSP00000399457.3
AA pos: 201
hgvs_p: ENSP00000364188.3:p.Gly201Arg
blosum: -2
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.919)
dbSNP
rs1166312788
TOPMED_MAF = 0.00000796381243628
ClinVar
445345
clinvar_significance = Uncertain_significance
gnomAD
gnomAD
Source: Genome
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 8706 |
0.023% |
| America/Latino |
0 / 846 |
0% |
| Ashkenazi Jewish |
0 / 290 |
0% |
| East Asian |
0 / 1558 |
0% |
| Finnish |
0 / 3474 |
0% |
| Non-Finnish |
0 / 15400 |
0% |
| Other |
0 / 1084 |
0% |
| Estonian |
0 / 4566 |
0% |
| North-Western European |
0 / 8592 |
0% |
| Southern European |
0 / 106 |
0% |
| Other non-Finnish European |
0 / 2136 |
0% |
| Total MAF |
2 / 31358 |
0.00638% |
Export Variant