AGO1 argonaute RISC component 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 2 | 8 |
Likely pathogenic | 0 | 18 |
Benign | 0 | 18 |
Likely benign | 0 | 26 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 100 |
Ranking
ClinVar | |
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0 |
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0 |
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10 |
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146 |
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8 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | EIF2C |
SYNONYM | EIF2C1 |
SYNONYM | GERP95 |
SYNONYM | NEDLBAS |
SYNONYM | Q99 |
SYNONYM | hAgo1 |
MIM | 606228 OMIM |
HGNC | HGNC:3262 HGNC |
Ensembl | ENSG00000092847 Ensembl |
AllianceGenome | HGNC:3262 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000373204.6 | hg38 | chr1 | 35,883,209 | 35,930,532 | 47,324 |
ENST00000373206.5 | hg38 | chr1 | 35,869,808 | 35,920,958 | 51,151 |
ENST00000674426.1 | hg38 | chr1 | 35,883,209 | 35,930,532 | 47,324 |
ENST00000373206.5 | hg19 | chr1 | 36,335,409 | 36,386,559 | 51,151 |
ENST00000373204.6 | hg19 | chr1 | 36,348,810 | 36,396,133 | 47,324 |
ENST00000674426.1 | hg19 | chr1 | 36,348,810 | 36,396,133 | 47,324 |
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