Classification
Category 3
non_synonymous
CMH MAF
7 /
13144 samples
(0.0533%)
7 het.,
0 hom.
(100%)
7 /
26288 total alleles
(0.0266%)
Genes
gene: ANK3
synonym(s): ANKYRIN-G, ANK3, ENSG00000151150
NM_001149.3
[intron]
hgvs_c: NM_001149.3:c.1807+5576C>G
protein sequence:
NP_001140.2
NM_001204403.1
[intron]
hgvs_c: NM_001204403.1:c.4387+5576C>G
protein sequence:
NP_001191332.1
NM_001204404.1
[intron]
hgvs_c: NM_001204404.1:c.4408+5576C>G
protein sequence:
NP_001191333.1
NM_020987.3
[CDS]
Reportable
hgvs_c: NM_020987.3:c.5920C>G
reference AA: P
variant AA: A
reference codon: Ccc
variant codon: Gcc
cDNA pos: 6258
CDS pos: 5920
translation impact: non_synonymous
protein sequence:
NP_066267.2
AA pos: 1974
hgvs_p: NP_066267.2:p.Pro1974Ala
blosum: -1
PolyPhen2: benign (0.0)
dbSNP
rs139774460
GMAF = 0.0003994
TOPMED_MAF = 0.00043004587155963
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000000,0.000681,0.000231
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
10 / 10382 |
0.0963% |
| America/Latino |
0 / 11486 |
0% |
| East Asian |
0 / 8596 |
0% |
| Finnish |
0 / 6600 |
0% |
| Non-Finnish |
0 / 66600 |
0% |
| Other |
0 / 900 |
0% |
| South Asian |
0 / 16508 |
0% |
| Total MAF |
10 / 121072 |
0.00826% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
24 / 24960 |
0.0962% |
| America/Latino |
1 / 35376 |
0.00283% |
| Ashkenazi Jewish |
0 / 10358 |
0% |
| East Asian |
0 / 19914 |
0% |
| Finnish |
0 / 25098 |
0% |
| Non-Finnish |
0 / 128814 |
0% |
| Other |
0 / 7196 |
0% |
| South Asian |
0 / 30606 |
0% |
| Korean |
0 / 3780 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
0 / 4824 |
0% |
| North-Western European |
0 / 50624 |
0% |
| Southern European |
0 / 11578 |
0% |
| Swedish |
0 / 26108 |
0% |
| Other non-Finnish European |
0 / 33012 |
0% |
| Total MAF |
25 / 282322 |
0.00886% |
Export Variant