CCT2 chaperonin containing TCP1 subunit 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 18 |
Likely benign | 0 | 266 |
Uncertain significance | 0 | 364 |
Ranking
ClinVar | |
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0 |
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0 |
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38 |
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610 |
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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
[No Data.]
Locus Zoom
Variants
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 |
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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 | 99D8.1 |
SYNONYM | CCT-beta |
SYNONYM | CCTB |
SYNONYM | HEL-S-100n |
SYNONYM | PRO1633 |
SYNONYM | TCP-1-beta |
MIM | 605139 OMIM |
HGNC | HGNC:1615 HGNC |
Ensembl | ENSG00000166226 Ensembl |
AllianceGenome | HGNC:1615 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000543146.2 | hg38 | chr12 | 69,585,666 | 69,601,565 | 15,900 |
ENST00000299300.11 | hg38 | chr12 | 69,585,459 | 69,601,570 | 16,112 |
ENST00000544368.6 | hg38 | chr12 | 69,585,460 | 69,601,525 | 16,066 |
ENST00000299300.11 | hg19 | chr12 | 69,979,239 | 69,995,350 | 16,112 |
ENST00000544368.6 | hg19 | chr12 | 69,979,240 | 69,995,305 | 16,066 |
ENST00000543146.2 | hg19 | chr12 | 69,979,446 | 69,995,345 | 15,900 |
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