Classification
Category 3
non_synonymous
CMH MAF
4 /
13144 samples
(0.0304%)
4 het.,
0 hom.
(100%)
4 /
26288 total alleles
(0.0152%)
Genes
gene: ZBTB18
synonym(s): C2H2-171, RP58, TAZ-1, ZNF238, ZBTB18, ENSG00000179456
NM_001278196.1
[CDS]
hgvs_c: NM_001278196.1:c.611A>G
reference AA: H
variant AA: R
reference codon: cAc
variant codon: cGc
cDNA pos: 680
CDS pos: 611
translation impact: non_synonymous
protein sequence:
NP_001265125.1
AA pos: 204
hgvs_p: NP_001265125.1:p.His204Arg
blosum: 0
SIFT: tolerated (0.68)
PolyPhen2: benign (0.002)
NM_006352.4
[CDS]
hgvs_c: NM_006352.4:c.611A>G
reference AA: H
variant AA: R
reference codon: cAc
variant codon: cGc
cDNA pos: 1208
CDS pos: 611
translation impact: non_synonymous
protein sequence:
NP_006343.2
AA pos: 204
hgvs_p: NP_006343.2:p.His204Arg
blosum: 0
SIFT: tolerated (0.68)
PolyPhen2: benign (0.002)
NM_205768.2
[CDS]
Reportable
hgvs_c: NM_205768.2:c.638A>G
reference AA: H
variant AA: R
reference codon: cAc
variant codon: cGc
cDNA pos: 811
CDS pos: 638
translation impact: non_synonymous
protein sequence:
NP_991331.1
AA pos: 213
hgvs_p: NP_991331.1:p.His213Arg
blosum: 0
SIFT: tolerated (0.69)
PolyPhen2: benign (0.003)
dbSNP
rs529044378
TOPMED_MAF = 0.00004778287461773
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10328 |
0% |
| America/Latino |
1 / 11564 |
0.00865% |
| East Asian |
0 / 8642 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
0 / 66466 |
0% |
| Other |
0 / 906 |
0% |
| South Asian |
0 / 16500 |
0% |
| Total MAF |
1 / 121020 |
0.000826% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 24940 |
0% |
| America/Latino |
2 / 35432 |
0.00564% |
| Ashkenazi Jewish |
0 / 10364 |
0% |
| East Asian |
0 / 19936 |
0% |
| Finnish |
0 / 25122 |
0% |
| Non-Finnish |
3 / 128980 |
0.00233% |
| Other |
0 / 7220 |
0% |
| South Asian |
0 / 30612 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14406 |
0% |
| Bulgarian |
0 / 2666 |
0% |
| Estonian |
0 / 4826 |
0% |
| North-Western European |
3 / 50728 |
0.00591% |
| Southern European |
0 / 11602 |
0% |
| Swedish |
0 / 26126 |
0% |
| Other non-Finnish European |
0 / 33032 |
0% |
| Total MAF |
5 / 282606 |
0.00177% |
Export Variant