Classification
Category 3
non_synonymous
CMH MAF
5 /
13144 samples
(0.038%)
5 het.,
0 hom.
(100%)
5 /
26288 total alleles
(0.019%)
Genes
gene: DHTKD1
synonym(s): AMOXAD, CMT2Q, DHTKD1, ENSG00000181192
ENST00000263035.4
[CDS]
Reportable
hgvs_c: ENST00000263035.4:c.64C>A
reference AA: R
variant AA: S
reference codon: Cgt
variant codon: Agt
cDNA pos: 126
CDS pos: 64
translation impact: non_synonymous
protein sequence:
ENSP00000263035.4
AA pos: 22
hgvs_p: ENSP00000263035.4:p.Arg22Ser
blosum: -1
SIFT: deleterious (0.03)
PolyPhen2: benign (0.154)
dbSNP
rs764415717
TOPMED_MAF = 0.00001592762487257
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 8360 |
0% |
| America/Latino |
19 / 10514 |
0.181% |
| East Asian |
0 / 8156 |
0% |
| Finnish |
0 / 5230 |
0% |
| Non-Finnish |
0 / 59800 |
0% |
| Other |
0 / 784 |
0% |
| South Asian |
0 / 15304 |
0% |
| Total MAF |
19 / 108148 |
0.0176% |
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 14912 |
0% |
| America/Latino |
54 / 34266 |
0.158% |
| Ashkenazi Jewish |
0 / 9860 |
0% |
| East Asian |
0 / 17958 |
0% |
| Finnish |
0 / 20912 |
0% |
| Non-Finnish |
0 / 108926 |
0% |
| Other |
1 / 5908 |
0.0169% |
| South Asian |
0 / 30394 |
0% |
| Korean |
0 / 3816 |
0% |
| Japanese |
0 / 90 |
0% |
| Other East Asian |
0 / 14052 |
0% |
| Bulgarian |
0 / 2546 |
0% |
| Estonian |
0 / 226 |
0% |
| North-Western European |
0 / 40110 |
0% |
| Southern European |
0 / 11134 |
0% |
| Swedish |
0 / 25658 |
0% |
| Other non-Finnish European |
0 / 29252 |
0% |
| Total MAF |
55 / 243136 |
0.0226% |
Export Variant
Curation
Uncertain Significance