HPN hepsin
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 30 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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38 |
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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 |
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 | TMPRSS1 |
MIM | 142440 OMIM |
HGNC | HGNC:5155 HGNC |
Ensembl | ENSG00000105707 Ensembl |
AllianceGenome | HGNC:5155 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000597419.1 | hg38 | chr19 | 35,041,766 | 35,066,558 | 24,793 |
ENST00000392226.5 | hg38 | chr19 | 35,040,506 | 35,066,571 | 26,066 |
ENST00000673426.1 | hg38 | chr19 | 35,041,722 | 35,066,571 | 24,850 |
ENST00000262626.6 | hg38 | chr19 | 35,040,506 | 35,066,571 | 26,066 |
ENST00000672452.2 | hg38 | chr19 | 35,041,721 | 35,066,573 | 24,853 |
ENST00000262626.6 | hg19 | chr19 | 35,531,410 | 35,557,475 | 26,066 |
ENST00000392226.5 | hg19 | chr19 | 35,531,410 | 35,557,475 | 26,066 |
ENST00000672452.2 | hg19 | chr19 | 35,532,625 | 35,557,477 | 24,853 |
ENST00000673426.1 | hg19 | chr19 | 35,532,626 | 35,557,475 | 24,850 |
ENST00000597419.1 | hg19 | chr19 | 35,532,670 | 35,557,462 | 24,793 |
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