Classification
Category 3
non_synonymous
CMH MAF
1 /
13105 samples
(0.00763%)
1 het.,
0 hom.
(100%)
1 /
26210 total alleles
(0.00382%)
Genes
gene: SLC45A1
synonym(s): DNB5, SLC45A1, ENSG00000162426
NM_001080397.1
[CDS]
Reportable
hgvs_c: NM_001080397.1:c.328C>T
reference AA: P
variant AA: S
reference codon: Ccg
variant codon: Tcg
cDNA pos: 328
CDS pos: 328
translation impact: non_synonymous
protein sequence:
NP_001073866.1
AA pos: 110
hgvs_p: NP_001073866.1:p.Pro110Ser
blosum: -1
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)
dbSNP
rs1192719113
TOPMED_MAF = 0.00001592762487257
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 13760 |
0% |
| America/Latino |
0 / 32566 |
0% |
| Ashkenazi Jewish |
0 / 9458 |
0% |
| East Asian |
0 / 16742 |
0% |
| Finnish |
0 / 19062 |
0% |
| Non-Finnish |
1 / 100148 |
0.000999% |
| Other |
0 / 5628 |
0% |
| South Asian |
0 / 27490 |
0% |
| Korean |
0 / 3412 |
0% |
| Japanese |
0 / 102 |
0% |
| Other East Asian |
0 / 13228 |
0% |
| Bulgarian |
0 / 2050 |
0% |
| Estonian |
0 / 226 |
0% |
| North-Western European |
1 / 40642 |
0.00246% |
| Southern European |
0 / 9260 |
0% |
| Swedish |
0 / 20450 |
0% |
| Other non-Finnish European |
0 / 27520 |
0% |
| Total MAF |
1 / 224854 |
0.000445% |
Export Variant
Curation
Uncertain Significance