Classification
Category 2
CMH MAF
15 /
13144 samples
(0.114%)
15 het.,
0 hom.
(100%)
15 /
26288 total alleles
(0.0571%)
Genes
gene: DPH1
synonym(s): DPH2L, DPH2L1, OVCA1, DPH1, ENSG00000108963
NM_001383.3
[CDS]
Reportable
hgvs_c: NM_001383.3:c.374T>C
reference AA: L
variant AA: P
reference codon: cTg
variant codon: cCg
cDNA pos: 392
CDS pos: 374
translation impact: non_synonymous
protein sequence:
NP_001374.3
AA pos: 125
hgvs_p: NP_001374.3:p.Leu125Pro
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)
dbSNP
rs200530055
GMAF = 0.0001997
TOPMED_MAF = 0.00027076962283384
ClinVar
521028
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Inborn genetic diseases
clinvar_disease = Developmental delay with short stature
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000235,0.000000,0.000156
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 9722 |
0.0103% |
| America/Latino |
4 / 11508 |
0.0348% |
| East Asian |
0 / 8606 |
0% |
| Finnish |
1 / 6410 |
0.0156% |
| Non-Finnish |
23 / 65944 |
0.0349% |
| Other |
0 / 872 |
0% |
| South Asian |
0 / 16478 |
0% |
| Total MAF |
29 / 119540 |
0.0243% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
3 / 24130 |
0.0124% |
| America/Latino |
21 / 35334 |
0.0594% |
| Ashkenazi Jewish |
0 / 10322 |
0% |
| East Asian |
0 / 19530 |
0% |
| Finnish |
2 / 25012 |
0.008% |
| Non-Finnish |
52 / 128174 |
0.0406% |
| Other |
2 / 7124 |
0.0281% |
| South Asian |
0 / 30596 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 134 |
0% |
| Other East Asian |
0 / 14018 |
0% |
| Bulgarian |
0 / 2658 |
0% |
| Estonian |
0 / 4818 |
0% |
| North-Western European |
30 / 50482 |
0.0594% |
| Southern European |
10 / 11492 |
0.087% |
| Swedish |
2 / 26060 |
0.00767% |
| Other non-Finnish European |
10 / 32664 |
0.0306% |
| Total MAF |
80 / 280222 |
0.0285% |
Export Variant