HAS1 hyaluronan synthase 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
Uncertain significance | 0 | 94 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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96 |
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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 |
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Target data | : |
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 | HAS |
MIM | 601463 OMIM |
HGNC | HGNC:4818 HGNC |
Ensembl | ENSG00000105509 Ensembl |
AllianceGenome | HGNC:4818 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000540069.7 | hg38 | chr19 | 51,713,112 | 51,723,991 | 10,880 |
ENST00000601714.5 | hg38 | chr19 | 51,713,112 | 51,719,941 | 6,830 |
ENST00000222115.5 | hg38 | chr19 | 51,713,112 | 51,723,968 | 10,857 |
ENST00000594621.1 | hg38 | chr19 | 51,713,892 | 51,719,469 | 5,578 |
ENST00000601714.5 | hg19 | chr19 | 52,216,365 | 52,223,194 | 6,830 |
ENST00000222115.5 | hg19 | chr19 | 52,216,365 | 52,227,221 | 10,857 |
ENST00000540069.7 | hg19 | chr19 | 52,216,365 | 52,227,244 | 10,880 |
ENST00000594621.1 | hg19 | chr19 | 52,217,145 | 52,222,722 | 5,578 |
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