KCND1 potassium voltage-gated channel subfamily D member 1
Information
- Symbol
- KCND1
- Type
- protein-coding
- Description
- potassium voltage-gated channel subfamily D member 1
- Entrez Gene ID
- 3750
- Genome
- hg19
- Position
- chrX:48,818,641-48,828,251
- Genome
- hg38
- Position
- chrX:48,961,380-48,971,844
- MIM
- 300281 OMIM
- HGNC
- HGNC:6237 HGNC
- Ensembl
- ENSG00000102057 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 6 |
| Likely benign | 0 | 9 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 38 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
53 |
 |
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
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 | KV4.1 |
| MIM | 300281 OMIM |
| HGNC | HGNC:6237 HGNC |
| Ensembl | ENSG00000102057 Ensembl |
| AllianceGenome | HGNC:6237 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000218176.4 | hg38 | chrX | 48,961,380 | 48,971,844 | 10,465 |
| ENST00000376477.5 | hg38 | chrX | 48,961,378 | 48,968,386 | 7,009 |
| ENST00000376477.5 | hg19 | chrX | 48,818,639 | 48,824,793 | 6,155 |
| ENST00000218176.4 | hg19 | chrX | 48,818,641 | 48,828,251 | 9,611 |
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