Classification
Category 2
frameshift
CMH MAF
2 /
13144 samples
(0.0152%)
2 het.,
0 hom.
(100%)
2 /
26288 total alleles
(0.00761%)
Genes
gene: NOD2
synonym(s): ACUG, BLAU, CARD15, CD, CLR16.3, IBD1, NLRC2, NOD2B, PSORAS1, NOD2, ENSG00000167207
NM_022162.1
[CDS]
Reportable
hgvs_c: NM_022162.1:c.1334del
reference AA: K
variant AA: X
reference codon: Aag
variant codon: ag
cDNA pos: 1438
CDS pos: 1333
translation impact: frameshift
protein sequence:
NP_071445.1
AA pos: 445
hgvs_p: NP_071445.1:p.Lys445ArgfsTer12
blosum: -1
dbSNP
rs1198315856
TOPMED_MAF = 0.00002389143730886
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 16158 |
0% |
| America/Latino |
0 / 34576 |
0% |
| Ashkenazi Jewish |
0 / 10060 |
0% |
| East Asian |
0 / 18380 |
0% |
| Finnish |
0 / 21546 |
0% |
| Non-Finnish |
4 / 112972 |
0.00354% |
| Other |
0 / 6126 |
0% |
| South Asian |
0 / 30614 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14410 |
0% |
| Bulgarian |
0 / 2644 |
0% |
| Estonian |
0 / 236 |
0% |
| North-Western European |
2 / 41810 |
0.00478% |
| Southern European |
1 / 11454 |
0.00873% |
| Swedish |
0 / 26116 |
0% |
| Other non-Finnish European |
1 / 30712 |
0.00326% |
| Total MAF |
4 / 250432 |
0.0016% |
Export Variant