Classification
Category 3
non_synonymous
CMH MAF
2 /
13585 samples
(0.0147%)
2 het.,
0 hom.
(100%)
2 /
27170 total alleles
(0.00736%)
Genes
gene: CHST3
synonym(s): C6ST, C6ST1, HSD, CHST3, ENSG00000122863
NM_004273.4
[CDS]
Reportable
hgvs_c: NM_004273.4:c.518C>T
reference AA: S
variant AA: F
reference codon: tCc
variant codon: tTc
cDNA pos: 958
CDS pos: 518
translation impact: non_synonymous
protein sequence:
NP_004264.2
AA pos: 173
hgvs_p: NP_004264.2:p.Ser173Phe
blosum: -2
SIFT: tolerated (0.1)
PolyPhen2: benign (0.016)
dbSNP
rs751961615
TOPMED_MAF = 0.00003185524974515
ClinVar
445944
clinvar_significance = Uncertain_significance
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 8286 |
0% |
| America/Latino |
15 / 10802 |
0.139% |
| East Asian |
0 / 8084 |
0% |
| Finnish |
0 / 5388 |
0% |
| Non-Finnish |
0 / 59886 |
0% |
| Other |
0 / 760 |
0% |
| South Asian |
0 / 15758 |
0% |
| Total MAF |
15 / 108964 |
0.0138% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 23814 |
0% |
| America/Latino |
34 / 35028 |
0.0971% |
| Ashkenazi Jewish |
0 / 10044 |
0% |
| East Asian |
0 / 19400 |
0% |
| Finnish |
0 / 20026 |
0% |
| Non-Finnish |
0 / 122320 |
0% |
| Other |
1 / 6938 |
0.0144% |
| South Asian |
0 / 30362 |
0% |
| Korean |
0 / 3816 |
0% |
| Japanese |
0 / 66 |
0% |
| Other East Asian |
0 / 13960 |
0% |
| Bulgarian |
0 / 2432 |
0% |
| Estonian |
0 / 4778 |
0% |
| North-Western European |
0 / 47798 |
0% |
| Southern European |
0 / 11134 |
0% |
| Swedish |
0 / 25736 |
0% |
| Other non-Finnish European |
0 / 30442 |
0% |
| Total MAF |
35 / 267932 |
0.0131% |
Export Variant
Curation
Uncertain Significance