CLCN4 chloride voltage-gated channel 4
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 48 |
Likely pathogenic | 0 | 38 |
Benign | 0 | 176 |
Likely benign | 0 | 418 |
Conflicting classifications of pathogenicity | 0 | 40 |
not provided | 7 | 0 |
Uncertain significance | 0 | 450 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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182 |
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888 |
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16 |
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 |
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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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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | CLC4 |
SYNONYM | ClC-4 |
SYNONYM | ClC-4A |
SYNONYM | MRX15 |
SYNONYM | MRX49 |
SYNONYM | MRXSRC |
MIM | 302910 OMIM |
HGNC | HGNC:2022 HGNC |
Ensembl | ENSG00000073464 Ensembl |
AllianceGenome | HGNC:2022 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000674669.1 | hg38 | chrX | 10,158,500 | 10,233,720 | 75,221 |
ENST00000421085.7 | hg38 | chrX | 10,158,478 | 10,234,773 | 76,296 |
ENST00000380833.9 | hg38 | chrX | 10,156,975 | 10,237,660 | 80,686 |
ENST00000380829.5 | hg38 | chrX | 10,158,448 | 10,233,697 | 75,250 |
ENST00000380833.9 | hg19 | chrX | 10,125,015 | 10,205,700 | 80,686 |
ENST00000380829.5 | hg19 | chrX | 10,126,488 | 10,201,737 | 75,250 |
ENST00000421085.7 | hg19 | chrX | 10,126,518 | 10,202,813 | 76,296 |
ENST00000674669.1 | hg19 | chrX | 10,126,540 | 10,201,760 | 75,221 |
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