H19 H19 imprinted maternally expressed transcript
Information
Clinical Significance
MGeND | ClinVar |
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Ranking
ClinVar | |
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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 |
Search Word
Target data | : |
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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Category | : |
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Search word | : | |
Filtering | : |
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 | ASM |
SYNONYM | ASM1 |
SYNONYM | BWS |
SYNONYM | D11S813E |
SYNONYM | LINC00008 |
SYNONYM | MIR675HG |
SYNONYM | NCRNA00008 |
SYNONYM | WT2 |
MIM | 103280 OMIM |
HGNC | HGNC:4713 HGNC |
Ensembl | ENSG00000130600 Ensembl |
AllianceGenome | HGNC:4713 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000691195.1 | hg38 | chr11 | 1,995,176 | 1,997,842 | 2,667 |
ENST00000710492.1 | hg38 | chr11 | 1,995,176 | 2,001,306 | 6,131 |
ENST00000710492.1 | hg19 | chr11 | 2,016,406 | 2,022,536 | 6,131 |
ENST00000691195.1 | hg19 | chr11 | 2,016,406 | 2,019,072 | 2,667 |
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