1:19545802-19545802 G > A

Classification

Category 3

curation

CMH MAF

1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

Genes

Consequences
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

Export Variant

Curation

Uncertain Significance