H2BC4 H2B clustered histone 4
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| not provided | 3 | 0 |
| Uncertain significance | 2 | 10 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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10 |
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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
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 | |||||||||||
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | H2B.1 |
| SYNONYM | H2B/l |
| SYNONYM | H2BC10 |
| SYNONYM | H2BC6 |
| SYNONYM | H2BC7 |
| SYNONYM | H2BC8 |
| SYNONYM | H2BFL |
| SYNONYM | HIST1H2BC |
| SYNONYM | dJ221C16.3 |
| MIM | 602847 OMIM |
| HGNC | HGNC:4757 HGNC |
| Ensembl | ENSG00000180596 Ensembl |
| AllianceGenome | HGNC:4757 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000314332.5 | hg38 | chr6 | 26,114,873 | 26,123,910 | 9,038 |
| ENST00000396984.2 | hg38 | chr6 | 26,123,467 | 26,123,926 | 460 |
| ENST00000314332.5 | hg19 | chr6 | 26,115,101 | 26,124,138 | 9,038 |
| ENST00000396984.2 | hg19 | chr6 | 26,123,695 | 26,124,154 | 460 |
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