CLIC1 chloride intracellular channel 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
not provided | 2 | 0 |
Uncertain significance | 0 | 20 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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22 |
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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 | |||||
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | CL1C1 |
SYNONYM | CLCNL1 |
SYNONYM | G6 |
SYNONYM | NCC27 |
MIM | 602872 OMIM |
HGNC | HGNC:2062 HGNC |
Ensembl | ENSG00000213719 Ensembl |
AllianceGenome | HGNC:2062 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000395892.5 | hg38 | chr6 | 31,730,581 | 31,739,763 | 9,183 |
ENST00000375779.6 | hg38 | chr6 | 31,730,581 | 31,736,572 | 5,992 |
ENST00000375780.6 | hg38 | chr6 | 31,730,581 | 31,737,318 | 6,738 |
ENST00000375784.8 | hg38 | chr6 | 31,730,599 | 31,736,530 | 5,932 |
ENST00000616760.1 | hg38 | chr6 | 31,730,583 | 31,736,545 | 5,963 |
ENST00000375779.6 | hg19 | chr6 | 31,698,358 | 31,704,349 | 5,992 |
ENST00000375780.6 | hg19 | chr6 | 31,698,358 | 31,705,095 | 6,738 |
ENST00000395892.5 | hg19 | chr6 | 31,698,358 | 31,707,540 | 9,183 |
ENST00000616760.1 | hg19 | chr6 | 31,698,360 | 31,704,322 | 5,963 |
ENST00000375784.8 | hg19 | chr6 | 31,698,376 | 31,704,307 | 5,932 |
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