Classification
Category 1
CMH MAF
4 /
13144 samples
(0.0304%)
4 het.,
0 hom.
(100%)
4 /
26288 total alleles
(0.0152%)
Genes
gene: STIL
synonym(s): MCPH7, SIL, STIL, ENSG00000123473
NM_001048166.1
[CDS]
hgvs_c: NM_001048166.1:c.2150G>T
reference AA: G
variant AA: V
reference codon: gGa
variant codon: gTa
cDNA pos: 2305
CDS pos: 2150
translation impact: non_synonymous
protein sequence:
NP_001041631.1
AA pos: 717
hgvs_p: NP_001041631.1:p.Gly717Val
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)
NM_003035.2
[CDS]
Reportable
hgvs_c: NM_003035.2:c.2150G>T
reference AA: G
variant AA: V
reference codon: gGa
variant codon: gTa
cDNA pos: 2305
CDS pos: 2150
translation impact: non_synonymous
protein sequence:
NP_003026.2
AA pos: 717
hgvs_p: NP_003026.2:p.Gly717Val
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
dbSNP
rs1011425886
TOPMED_MAF = 0.00003185524974515
gnomAD
gnomAD
Source: Genome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 8716 |
0% |
| America/Latino |
0 / 848 |
0% |
| Ashkenazi Jewish |
0 / 290 |
0% |
| East Asian |
0 / 1560 |
0% |
| Finnish |
0 / 3476 |
0% |
| Non-Finnish |
1 / 15422 |
0.00648% |
| Other |
0 / 1088 |
0% |
| Estonian |
0 / 4588 |
0% |
| North-Western European |
1 / 8592 |
0.0116% |
| Southern European |
0 / 106 |
0% |
| Other non-Finnish European |
0 / 2136 |
0% |
| Total MAF |
1 / 31400 |
0.00318% |
Export Variant