CCT7 chaperonin containing TCP1 subunit 7
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Uncertain significance | 0 | 50 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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50 |
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2 |
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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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 | CCTETA |
SYNONYM | CCTH |
SYNONYM | NIP7-1 |
SYNONYM | TCP1ETA |
MIM | 605140 OMIM |
HGNC | HGNC:1622 HGNC |
Ensembl | ENSG00000135624 Ensembl |
AllianceGenome | HGNC:1622 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000540468.5 | hg38 | chr2 | 73,234,236 | 73,253,021 | 18,786 |
ENST00000398422.2 | hg38 | chr2 | 73,234,308 | 73,253,004 | 18,697 |
ENST00000539919.5 | hg38 | chr2 | 73,234,236 | 73,253,021 | 18,786 |
ENST00000258091.10 | hg38 | chr2 | 73,234,308 | 73,253,005 | 18,698 |
ENST00000539919.5 | hg19 | chr2 | 73,461,364 | 73,480,149 | 18,786 |
ENST00000540468.5 | hg19 | chr2 | 73,461,364 | 73,480,149 | 18,786 |
ENST00000398422.2 | hg19 | chr2 | 73,461,436 | 73,480,132 | 18,697 |
ENST00000258091.10 | hg19 | chr2 | 73,461,436 | 73,480,133 | 18,698 |
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