H1-4 H1.4 linker histone, cluster member
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 1 | 50 |
| Likely pathogenic | 0 | 18 |
| Benign | 0 | 22 |
| Likely benign | 0 | 110 |
| Conflicting classifications of pathogenicity | 0 | 6 |
| not provided | 0 | 8 |
| Uncertain significance | 0 | 86 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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54 |
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206 |
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6 |
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 | |||||||||||
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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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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 | H1.4 |
| SYNONYM | H1E |
| SYNONYM | H1F4 |
| SYNONYM | H1s-4 |
| SYNONYM | HIST1H1E |
| SYNONYM | RMNS |
| SYNONYM | dJ221C16.5 |
| MIM | 142220 OMIM |
| HGNC | HGNC:4718 HGNC |
| Ensembl | ENSG00000168298 Ensembl |
| AllianceGenome | HGNC:4718 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000304218.6 | hg38 | chr6 | 26,156,329 | 26,157,115 | 787 |
| ENST00000304218.6 | hg19 | chr6 | 26,156,557 | 26,157,343 | 787 |
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