Classification
Category 1
CMH MAF
12 /
13813 samples
(0.0869%)
12 het.,
0 hom.
(100%)
12 /
27626 total alleles
(0.0434%)
Genes
gene: ALG1
synonym(s): CDG1K, hMat-1, HMAT1, HMT-1, HMT1, Mat-1, MT-1, ALG1, ENSG00000033011
NM_019109.4
[intron]
Reportable
hgvs_c: NM_019109.4:c.1187+3A>G
splice impact: five_prime_flank
protein sequence:
NP_061982.3
dbSNP
rs369160589
TOPMED_MAF = 0.00015927624872579
ClinVar
224118
clinvar_significance = Likely_pathogenic
clinvar_disease = Congenital disorder of glycosylation
clinvar_disease = Congenital disorder of glycosylation type 1K
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000377,0.000000,0.000247
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 10172 |
0.0197% |
| America/Latino |
0 / 11498 |
0% |
| East Asian |
0 / 8518 |
0% |
| Finnish |
0 / 6596 |
0% |
| Non-Finnish |
9 / 65566 |
0.0137% |
| Other |
0 / 900 |
0% |
| South Asian |
0 / 16482 |
0% |
| Total MAF |
11 / 119732 |
0.00919% |
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 16090 |
0.0124% |
| America/Latino |
0 / 34554 |
0% |
| Ashkenazi Jewish |
0 / 10040 |
0% |
| East Asian |
0 / 18306 |
0% |
| Finnish |
0 / 21126 |
0% |
| Non-Finnish |
23 / 112692 |
0.0204% |
| Other |
0 / 6108 |
0% |
| South Asian |
0 / 30604 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 134 |
0% |
| Other East Asian |
0 / 14354 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
0 / 236 |
0% |
| North-Western European |
20 / 41702 |
0.048% |
| Southern European |
0 / 11444 |
0% |
| Swedish |
0 / 26102 |
0% |
| Other non-Finnish European |
3 / 30540 |
0.00982% |
| Total MAF |
25 / 249520 |
0.01% |
Export Variant