KCNJ13 potassium inwardly rectifying channel subfamily J member 13
Information
- Symbol
- KCNJ13
- Type
- protein-coding
- Description
- potassium inwardly rectifying channel subfamily J member 13
- Entrez Gene ID
- 3769
- Genome
- hg19
- Position
- chr2:233,630,512-233,641,275
- Genome
- hg38
- Position
- chr2:232,765,802-232,776,565
- MIM
- 603208 OMIM
- HGNC
- HGNC:6259 HGNC
- Ensembl
- ENSG00000115474 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 14 |
| Likely pathogenic | 0 | 10 |
| Benign | 2 | 14 |
| Likely benign | 0 | 102 |
| Conflicting classifications of pathogenicity | 0 | 14 |
| Uncertain significance | 0 | 298 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
42 |
 |
378 |
 |
14 |
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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| Category | : |
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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 | KIR1.4 |
| SYNONYM | KIR7.1 |
| SYNONYM | LCA16 |
| SYNONYM | SVD |
| MIM | 603208 OMIM |
| HGNC | HGNC:6259 HGNC |
| Ensembl | ENSG00000115474 Ensembl |
| AllianceGenome | HGNC:6259 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000410029.1 | hg38 | chr2 | 232,768,140 | 232,771,405 | 3,266 |
| ENST00000233826.4 | hg38 | chr2 | 232,765,802 | 232,776,565 | 10,764 |
| ENST00000409779.1 | hg38 | chr2 | 232,768,076 | 232,776,565 | 8,490 |
| ENST00000233826.4 | hg19 | chr2 | 233,630,512 | 233,641,275 | 10,764 |
| ENST00000409779.1 | hg19 | chr2 | 233,632,786 | 233,641,275 | 8,490 |
| ENST00000410029.1 | hg19 | chr2 | 233,632,850 | 233,636,115 | 3,266 |
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