HAUS8 HAUS augmin like complex subunit 8
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 62 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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68 |
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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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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 |
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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 | DGT4 |
SYNONYM | HICE1 |
SYNONYM | NY-SAR-48 |
MIM | 613434 OMIM |
HGNC | HGNC:30532 HGNC |
Ensembl | ENSG00000131351 Ensembl |
AllianceGenome | HGNC:30532 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000593360.1 | hg38 | chr19 | 17,049,766 | 17,075,200 | 25,435 |
ENST00000253669.10 | hg38 | chr19 | 17,049,729 | 17,075,452 | 25,724 |
ENST00000448593.6 | hg38 | chr19 | 17,049,761 | 17,075,625 | 25,865 |
ENST00000253669.10 | hg19 | chr19 | 17,160,539 | 17,186,262 | 25,724 |
ENST00000448593.6 | hg19 | chr19 | 17,160,571 | 17,186,435 | 25,865 |
ENST00000593360.1 | hg19 | chr19 | 17,160,576 | 17,186,010 | 25,435 |
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