Classification
Category 3
curation
CMH MAF
1 /
13144 samples
(0.00761%)
1 het.,
0 hom.
(100%)
1 /
26288 total alleles
(0.0038%)
Genes
gene: EMC1
synonym(s): KIAA0090, RP1-43E13.1, EMC1, ENSG00000127463
NM_001271427.1
[CDS]
hgvs_c: NM_001271427.1:c.2974C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 3024
CDS pos: 2974
translation impact: premature_stop
protein sequence:
NP_001258356.1
AA pos: 992
hgvs_p: NP_001258356.1:p.Arg992Ter
blosum: -4
NM_001271428.1
[CDS]
hgvs_c: NM_001271428.1:c.2974C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 3024
CDS pos: 2974
translation impact: premature_stop
protein sequence:
NP_001258357.1
AA pos: 992
hgvs_p: NP_001258357.1:p.Arg992Ter
blosum: -4
NM_001271429.1
[CDS]
hgvs_c: NM_001271429.1:c.2911C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 2961
CDS pos: 2911
translation impact: premature_stop
protein sequence:
NP_001258358.1
AA pos: 971
hgvs_p: NP_001258358.1:p.Arg971Ter
blosum: -4
NM_015047.2
[CDS]
Reportable
hgvs_c: NM_015047.2:c.2977C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 3027
CDS pos: 2977
translation impact: premature_stop
protein sequence:
NP_055862.1
AA pos: 993
hgvs_p: NP_055862.1:p.Arg993Ter
blosum: -4
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
dbSNP
rs758888994
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 16256 |
0% |
| America/Latino |
0 / 34574 |
0% |
| Ashkenazi Jewish |
0 / 10076 |
0% |
| East Asian |
0 / 18394 |
0% |
| Finnish |
0 / 21616 |
0% |
| Non-Finnish |
2 / 113682 |
0.00176% |
| Other |
0 / 6128 |
0% |
| South Asian |
0 / 30612 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2670 |
0% |
| Estonian |
0 / 242 |
0% |
| North-Western European |
1 / 42174 |
0.00237% |
| Southern European |
0 / 11492 |
0% |
| Swedish |
0 / 26130 |
0% |
| Other non-Finnish European |
1 / 30974 |
0.00323% |
| Total MAF |
2 / 251338 |
0.000796% |
curated_classification = 3
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