TUBG1 tubulin gamma 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 10 |
Likely pathogenic | 0 | 18 |
Benign | 0 | 42 |
Likely benign | 0 | 148 |
Conflicting classifications of pathogenicity | 0 | 4 |
Uncertain significance | 0 | 64 |
Ranking
ClinVar | |
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0 |
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0 |
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48 |
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206 |
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12 |
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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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 |
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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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MGeND data only
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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 | CDCBM4 |
SYNONYM | GCP-1 |
SYNONYM | TUBG |
SYNONYM | TUBGCP1 |
MIM | 191135 OMIM |
HGNC | HGNC:12417 HGNC |
Ensembl | ENSG00000131462 Ensembl |
AllianceGenome | HGNC:12417 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000681413.1 | hg38 | chr17 | 42,609,641 | 42,615,226 | 5,586 |
ENST00000251413.8 | hg38 | chr17 | 42,609,683 | 42,615,238 | 5,556 |
ENST00000681413.1 | hg19 | chr17 | 40,761,659 | 40,767,244 | 5,586 |
ENST00000251413.8 | hg19 | chr17 | 40,761,701 | 40,767,256 | 5,556 |
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