Classification
Category 3
non_synonymous
CMH MAF
1 /
13144 samples
(0.00761%)
1 het.,
0 hom.
(100%)
1 /
26288 total alleles
(0.0038%)
Genes
gene: DDR2
synonym(s): MIG20a, NTRKR3, TKT, TYRO10, DDR2, ENSG00000162733
NM_001014796.1
[CDS]
hgvs_c: NM_001014796.1:c.383G>A
reference AA: R
variant AA: H
reference codon: cGc
variant codon: cAc
cDNA pos: 848
CDS pos: 383
translation impact: non_synonymous
protein sequence:
NP_001014796.1
AA pos: 128
hgvs_p: NP_001014796.1:p.Arg128His
blosum: 0
SIFT: tolerated (0.09)
PolyPhen2: benign (0.032)
NM_006182.2
[CDS]
Reportable
hgvs_c: NM_006182.2:c.383G>A
reference AA: R
variant AA: H
reference codon: cGc
variant codon: cAc
cDNA pos: 768
CDS pos: 383
translation impact: non_synonymous
protein sequence:
NP_006173.2
AA pos: 128
hgvs_p: NP_006173.2:p.Arg128His
blosum: 0
SIFT: tolerated (0.09)
PolyPhen2: benign (0.032)
dbSNP
rs149507401
TOPMED_MAF = 0.00000796381243628
ClinVar
293372
clinvar_significance = Uncertain_significance
clinvar_disease = Spondyloepimetaphyseal dysplasia
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 / 10352 |
0% |
| America/Latino |
0 / 11528 |
0% |
| East Asian |
0 / 8612 |
0% |
| Finnish |
0 / 6612 |
0% |
| Non-Finnish |
2 / 66622 |
0.003% |
| Other |
0 / 906 |
0% |
| South Asian |
1 / 16504 |
0.00606% |
| Total MAF |
3 / 121136 |
0.00248% |
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 16250 |
0.00615% |
| America/Latino |
0 / 34562 |
0% |
| Ashkenazi Jewish |
0 / 10048 |
0% |
| East Asian |
0 / 18374 |
0% |
| Finnish |
0 / 21646 |
0% |
| Non-Finnish |
3 / 113050 |
0.00265% |
| Other |
0 / 6122 |
0% |
| South Asian |
2 / 30616 |
0.00653% |
| Korean |
0 / 3798 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
0 / 242 |
0% |
| North-Western European |
0 / 41806 |
0% |
| Southern European |
0 / 11458 |
0% |
| Swedish |
1 / 26120 |
0.00383% |
| Other non-Finnish European |
2 / 30756 |
0.0065% |
| Total MAF |
6 / 250668 |
0.00239% |
Export Variant