CCT4 chaperonin containing TCP1 subunit 4
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 1 | 0 |
Uncertain significance | 0 | 52 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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54 |
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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 |
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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 |
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SYNONYM | CCT-DELTA |
SYNONYM | Cctd |
SYNONYM | SRB |
MIM | 605142 OMIM |
HGNC | HGNC:1617 HGNC |
Ensembl | ENSG00000115484 Ensembl |
AllianceGenome | HGNC:1617 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000544079.2 | hg38 | chr2 | 61,868,125 | 61,888,671 | 20,547 |
ENST00000394440.8 | hg38 | chr2 | 61,868,085 | 61,888,656 | 20,572 |
ENST00000394440.8 | hg19 | chr2 | 62,095,220 | 62,115,791 | 20,572 |
ENST00000544079.2 | hg19 | chr2 | 62,095,260 | 62,115,806 | 20,547 |
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