EML3 EMAP like 3
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Uncertain significance | 0 | 90 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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92 |
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0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 | ELP95 |
SYNONYM | EMAP3 |
SYNONYM | EMAP95 |
MIM | 618118 OMIM |
HGNC | HGNC:26666 HGNC |
Ensembl | ENSG00000149499 Ensembl |
AllianceGenome | HGNC:26666 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000529309.5 | hg38 | chr11 | 62,602,220 | 62,612,530 | 10,311 |
ENST00000494176.6 | hg38 | chr11 | 62,602,220 | 62,611,680 | 9,461 |
ENST00000394773.7 | hg38 | chr11 | 62,602,218 | 62,612,775 | 10,558 |
ENST00000531557.5 | hg38 | chr11 | 62,602,220 | 62,611,007 | 8,788 |
ENST00000278845.8 | hg38 | chr11 | 62,602,219 | 62,612,524 | 10,306 |
ENST00000394773.7 | hg19 | chr11 | 62,369,690 | 62,380,247 | 10,558 |
ENST00000278845.8 | hg19 | chr11 | 62,369,691 | 62,379,996 | 10,306 |
ENST00000494176.6 | hg19 | chr11 | 62,369,692 | 62,379,152 | 9,461 |
ENST00000529309.5 | hg19 | chr11 | 62,369,692 | 62,380,002 | 10,311 |
ENST00000531557.5 | hg19 | chr11 | 62,369,692 | 62,378,479 | 8,788 |
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