Classification
Category 4
curation
CMH MAF
195 /
11967 samples
(1.63%)
195 het.,
0 hom.
(100%)
195 /
23934 total alleles
(0.815%)
Genes
gene: ECE1
synonym(s): ECE, ECE1, ENSG00000117298
NM_001113347.1
[intron]
hgvs_c: NM_001113347.1:c.1635-20T>G
splice impact: three_prime_flank
protein sequence:
NP_001106818.1
NM_001113348.1
[intron]
hgvs_c: NM_001113348.1:c.1623-20T>G
protein sequence:
NP_001106819.1
NM_001113349.1
[intron]
hgvs_c: NM_001113349.1:c.1662-20T>G
protein sequence:
NP_001106820.1
NM_001397.2
[intron]
Reportable
hgvs_c: NM_001397.2:c.1671-20T>G
protein sequence:
NP_001388.1
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
dbSNP
rs886038483
rs190487320
GMAF = 0.001597
TOPMED_MAF = 0.00537557339449541
ClinVar
258086
clinvar_significance = Likely_benign
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.002577,0.001143,0.002091
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
3 / 2862 |
0.105% |
| America/Latino |
3 / 436 |
0.688% |
| East Asian |
0 / 768 |
0% |
| Finnish |
0 / 88 |
0% |
| Non-Finnish |
82 / 9636 |
0.851% |
| Other |
0 / 202 |
0% |
| South Asian |
11 / 7582 |
0.145% |
| Total MAF |
99 / 21574 |
0.459% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
26 / 17790 |
0.146% |
| America/Latino |
81 / 25728 |
0.315% |
| Ashkenazi Jewish |
18 / 8760 |
0.205% |
| East Asian |
0 / 13190 |
0% |
| Finnish |
8 / 17766 |
0.045% |
| Non-Finnish |
634 / 77352 |
0.82% |
| Other |
31 / 5574 |
0.556% |
| South Asian |
35 / 22818 |
0.153% |
| Korean |
0 / 1992 |
0% |
| Japanese |
0 / 94 |
0% |
| Other East Asian |
0 / 9548 |
0% |
| Bulgarian |
8 / 1026 |
0.78% |
| Estonian |
23 / 4788 |
0.48% |
| North-Western European |
426 / 44974 |
0.947% |
| Southern European |
6 / 2344 |
0.256% |
| Swedish |
24 / 3078 |
0.78% |
| Other non-Finnish European |
147 / 21142 |
0.695% |
| Total MAF |
833 / 188978 |
0.441% |
curated_classification = 4
Export Variant