KCNC3 potassium voltage-gated channel subfamily C member 3
Information
- Symbol
- KCNC3
- Type
- protein-coding
- Description
- potassium voltage-gated channel subfamily C member 3
- Entrez Gene ID
- 3748
- Genome
- hg19
- Position
- chr19:50,815,194-50,832,634
- Genome
- hg38
- Position
- chr19:50,311,937-50,329,377
- MIM
- 176264 OMIM
- HGNC
- HGNC:6235 HGNC
- Ensembl
- ENSG00000131398 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 12 |
Likely pathogenic | 0 | 8 |
Benign | 4 | 82 |
Likely benign | 0 | 250 |
Conflicting classifications of pathogenicity | 0 | 22 |
Uncertain significance | 0 | 358 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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120 |
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528 |
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12 |
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 | |||||
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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 | |||
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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 | KSHIIID |
SYNONYM | KV3.3 |
SYNONYM | SCA13 |
MIM | 176264 OMIM |
HGNC | HGNC:6235 HGNC |
Ensembl | ENSG00000131398 Ensembl |
AllianceGenome | HGNC:6235 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000376959.6 | hg38 | chr19 | 50,311,937 | 50,329,246 | 17,310 |
ENST00000474951.1 | hg38 | chr19 | 50,311,942 | 50,333,515 | 21,574 |
ENST00000670667.1 | hg38 | chr19 | 50,313,639 | 50,329,248 | 15,610 |
ENST00000477616.2 | hg38 | chr19 | 50,311,937 | 50,329,377 | 17,441 |
ENST00000376959.6 | hg19 | chr19 | 50,815,194 | 50,832,503 | 17,310 |
ENST00000477616.2 | hg19 | chr19 | 50,815,194 | 50,832,634 | 17,441 |
ENST00000474951.1 | hg19 | chr19 | 50,815,199 | 50,836,772 | 21,574 |
ENST00000670667.1 | hg19 | chr19 | 50,816,896 | 50,832,505 | 15,610 |
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