Classification
Category 3
non_synonymous
CMH MAF
2 /
13144 samples
(0.0152%)
2 het.,
0 hom.
(100%)
2 /
26288 total alleles
(0.00761%)
Genes
gene: ANK3
synonym(s): ANKYRIN-G, ANK3, ENSG00000151150
NM_001149.3
[intron]
hgvs_c: NM_001149.3:c.1807+4276A>G
protein sequence:
NP_001140.2
NM_001204403.1
[intron]
hgvs_c: NM_001204403.1:c.4387+4276A>G
protein sequence:
NP_001191332.1
NM_001204404.1
[intron]
hgvs_c: NM_001204404.1:c.4408+4276A>G
protein sequence:
NP_001191333.1
NM_020987.3
[CDS]
Reportable
hgvs_c: NM_020987.3:c.4620A>G
reference AA: I
variant AA: M
reference codon: atA
variant codon: atG
cDNA pos: 4958
CDS pos: 4620
translation impact: non_synonymous
protein sequence:
NP_066267.2
AA pos: 1540
hgvs_p: NP_066267.2:p.Ile1540Met
blosum: 1
PolyPhen2: probably_damaging (0.979)
dbSNP
rs573936153
GMAF = 0.0001997
TOPMED_MAF = 0.00003981906218144
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 10406 |
0.00961% |
| America/Latino |
0 / 11574 |
0% |
| East Asian |
0 / 8628 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
0 / 66726 |
0% |
| Other |
0 / 908 |
0% |
| South Asian |
0 / 16510 |
0% |
| Total MAF |
1 / 121366 |
0.000824% |
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 16256 |
0.0123% |
| America/Latino |
0 / 34586 |
0% |
| Ashkenazi Jewish |
0 / 10076 |
0% |
| East Asian |
0 / 18378 |
0% |
| Finnish |
3 / 21628 |
0.0139% |
| Non-Finnish |
0 / 113556 |
0% |
| Other |
0 / 6130 |
0% |
| South Asian |
0 / 30614 |
0% |
| Korean |
0 / 3802 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
0 / 242 |
0% |
| North-Western European |
0 / 42098 |
0% |
| Southern European |
0 / 11490 |
0% |
| Swedish |
0 / 26134 |
0% |
| Other non-Finnish European |
0 / 30924 |
0% |
| Total MAF |
5 / 251224 |
0.00199% |
Export Variant