Classification
Category 3
non_synonymous
CMH MAF
3 /
13144 samples
(0.0228%)
3 het.,
0 hom.
(100%)
3 /
26288 total alleles
(0.0114%)
Genes
gene: ASPM
synonym(s): ASP, Calmbp1, MCPH5, ASPM, ENSG00000066279
NM_001206846.1
[intron]
hgvs_c: NM_001206846.1:c.4066-6005C>G
protein sequence:
NP_001193775.1
NM_018136.4
[CDS]
Reportable
hgvs_c: NM_018136.4:c.7082C>G
reference AA: S
variant AA: C
reference codon: tCc
variant codon: tGc
cDNA pos: 7339
CDS pos: 7082
translation impact: non_synonymous
protein sequence:
NP_060606.3
AA pos: 2361
hgvs_p: NP_060606.3:p.Ser2361Cys
blosum: -1
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.984)
dbSNP
rs368151024
TOPMED_MAF = 0.00001592762487257
ClinVar
445983
clinvar_significance = Uncertain_significance
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000116,0.000000,0.000077
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10396 |
0% |
| America/Latino |
0 / 11426 |
0% |
| East Asian |
0 / 8636 |
0% |
| Finnish |
0 / 6610 |
0% |
| Non-Finnish |
1 / 66658 |
0.0015% |
| Other |
0 / 908 |
0% |
| South Asian |
0 / 16506 |
0% |
| Total MAF |
1 / 121140 |
0.000825% |
Export Variant