Classification
Category 1
CMH MAF
4 /
6955 samples
(0.0575%)
4 het.,
0 hom.
(100%)
4 /
13910 total alleles
(0.0288%)
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 / 8734 |
0% |
| America/Latino |
0 / 838 |
0% |
| Ashkenazi Jewish |
0 / 302 |
0% |
| East Asian |
0 / 1622 |
0% |
| Finnish |
0 / 3494 |
0% |
| Non-Finnish |
1 / 15004 |
0.00666% |
| Other |
0 / 982 |
0% |
| Total MAF |
1 / 30976 |
0.00323% |
Export Variant