KCNN4 potassium calcium-activated channel subfamily N member 4
Information
- Symbol
- KCNN4
- Type
- protein-coding
- Description
- potassium calcium-activated channel subfamily N member 4
- Entrez Gene ID
- 3783
- Genome
- hg19
- Position
- chr19:44,270,685-44,285,125
- Genome
- hg38
- Position
- chr19:43,766,533-43,780,973
- MIM
- 602754 OMIM
- HGNC
- HGNC:6293 HGNC
- Ensembl
- ENSG00000104783 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 4 |
| Likely pathogenic | 0 | 4 |
| Benign | 0 | 50 |
| Likely benign | 0 | 32 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 84 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
24 |
 |
148 |
 |
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 | |||||||||||
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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| Search word | : | |
| 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 | DHS2 |
| SYNONYM | IK |
| SYNONYM | IK1 |
| SYNONYM | IKCA1 |
| SYNONYM | KCA4 |
| SYNONYM | KCa3.1 |
| SYNONYM | SK4 |
| SYNONYM | hIKCa1 |
| SYNONYM | hKCa4 |
| SYNONYM | hSK4 |
| MIM | 602754 OMIM |
| HGNC | HGNC:6293 HGNC |
| Ensembl | ENSG00000104783 Ensembl |
| AllianceGenome | HGNC:6293 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000648319.1 | hg38 | chr19 | 43,766,533 | 43,780,973 | 14,441 |
| ENST00000648319.1 | hg19 | chr19 | 44,270,685 | 44,285,125 | 14,441 |
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