Classification
Category 3
premature_stop
CMH MAF
1 /
9594 samples
(0.0104%)
1 het.,
0 hom.
(100%)
1 /
19188 total alleles
(0.00521%)
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: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 24032 |
0% |
| America/Latino |
0 / 34418 |
0% |
| Ashkenazi Jewish |
0 / 10146 |
0% |
| East Asian |
0 / 18866 |
0% |
| Finnish |
0 / 25758 |
0% |
| Non-Finnish |
3 / 126622 |
0.00237% |
| Other |
0 / 6462 |
0% |
| South Asian |
0 / 30778 |
0% |
| Total MAF |
3 / 277082 |
0.00108% |
Export Variant