H2AZ1 H2A.Z variant histone 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 2 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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2 |
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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
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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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| 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 | H2A.Z-1 |
| SYNONYM | H2A.z |
| SYNONYM | H2A/z |
| SYNONYM | H2AFZ |
| SYNONYM | H2AZ |
| MIM | 142763 OMIM |
| HGNC | HGNC:4741 HGNC |
| Ensembl | ENSG00000164032 Ensembl |
| AllianceGenome | HGNC:4741 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000296417.6 | hg38 | chr4 | 99,948,088 | 99,950,275 | 2,188 |
| ENST00000651623.1 | hg38 | chr4 | 99,948,088 | 99,950,280 | 2,193 |
| ENST00000296417.6 | hg19 | chr4 | 100,869,245 | 100,871,432 | 2,188 |
| ENST00000651623.1 | hg19 | chr4 | 100,869,245 | 100,871,437 | 2,193 |
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