Classification
Category 4
three_prime_flank
CMH MAF
100 /
6917 samples
(1.45%)
100 het.,
0 hom.
(100%)
100 /
13834 total alleles
(0.723%)
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 / 16722 |
0.155% |
| America/Latino |
84 / 24930 |
0.337% |
| Ashkenazi Jewish |
18 / 8508 |
0.212% |
| East Asian |
0 / 12152 |
0% |
| Finnish |
9 / 17498 |
0.0514% |
| Non-Finnish |
612 / 73654 |
0.831% |
| Other |
14 / 4880 |
0.287% |
| South Asian |
36 / 22860 |
0.157% |
| Total MAF |
799 / 181204 |
0.441% |
Export Variant