H19 H19 imprinted maternally expressed transcript
Information
Clinical Significance
| MGeND | ClinVar |
|---|
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| 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 |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| 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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