KCNH4 potassium voltage-gated channel subfamily H member 4
Information
- Symbol
- KCNH4
- Type
- protein-coding
- Description
- potassium voltage-gated channel subfamily H member 4
- Entrez Gene ID
- 23415
- Genome
- hg19
- Position
- chr17:40,308,909-40,333,160
- Genome
- hg38
- Position
- chr17:42,156,891-42,181,142
- MIM
- 604528 OMIM
- HGNC
- HGNC:6253 HGNC
- Ensembl
- ENSG00000089558 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 100 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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104 |
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2 |
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 | |||||||||||
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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 | BEC2 |
| SYNONYM | ELK1 |
| SYNONYM | Kv12.3 |
| MIM | 604528 OMIM |
| HGNC | HGNC:6253 HGNC |
| Ensembl | ENSG00000089558 Ensembl |
| AllianceGenome | HGNC:6253 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000264661.4 | hg38 | chr17 | 42,156,891 | 42,181,142 | 24,252 |
| ENST00000607371.5 | hg38 | chr17 | 42,156,891 | 42,181,081 | 24,191 |
| ENST00000607371.5 | hg19 | chr17 | 40,308,909 | 40,333,099 | 24,191 |
| ENST00000264661.4 | hg19 | chr17 | 40,308,909 | 40,333,160 | 24,252 |
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