CIC capicua transcriptional repressor
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 38 |
Likely pathogenic | 0 | 64 |
Benign | 0 | 62 |
Likely benign | 0 | 396 |
Conflicting classifications of pathogenicity | 0 | 26 |
not provided | 50 | 34 |
Uncertain significance | 1 | 512 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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124 |
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902 |
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24 |
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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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 | MRD45 |
MIM | 612082 OMIM |
HGNC | HGNC:14214 HGNC |
Ensembl | ENSG00000079432 Ensembl |
AllianceGenome | HGNC:14214 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000575354.6 | hg38 | chr19 | 42,284,665 | 42,295,797 | 11,133 |
ENST00000160740.7 | hg38 | chr19 | 42,284,020 | 42,295,796 | 11,777 |
ENST00000681038.1 | hg38 | chr19 | 42,269,252 | 42,295,796 | 26,545 |
ENST00000572681.6 | hg38 | chr19 | 42,268,537 | 42,295,796 | 27,260 |
ENST00000572681.6 | hg19 | chr19 | 42,772,689 | 42,799,948 | 27,260 |
ENST00000681038.1 | hg19 | chr19 | 42,773,404 | 42,799,948 | 26,545 |
ENST00000160740.7 | hg19 | chr19 | 42,788,172 | 42,799,948 | 11,777 |
ENST00000575354.6 | hg19 | chr19 | 42,788,817 | 42,799,949 | 11,133 |
Key | Value |
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strand | + |
start | 42,772,688 |
Vogelstein | TSG |
Gene Symbol | CIC |
Entrez GeneId | 23,152 |
Chr Band | 19q13.2 |
end | 42,799,947 |
chr | chr19 |
Name | capicua homolog |
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