TMPRSS5 transmembrane serine protease 5
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 96 |
Likely benign | 0 | 48 |
Conflicting classifications of pathogenicity | 0 | 4 |
Uncertain significance | 0 | 40 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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20 |
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158 |
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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
Search Word
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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Target data | : |
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 | SPINESIN |
MIM | 606751 OMIM |
HGNC | HGNC:14908 HGNC |
Ensembl | ENSG00000166682 Ensembl |
AllianceGenome | HGNC:14908 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000538955.5 | hg38 | chr11 | 113,687,697 | 113,706,346 | 18,650 |
ENST00000536856.5 | hg38 | chr11 | 113,687,550 | 113,706,306 | 18,757 |
ENST00000544634.5 | hg38 | chr11 | 113,687,981 | 113,706,302 | 18,322 |
ENST00000545579.6 | hg38 | chr11 | 113,687,547 | 113,706,373 | 18,827 |
ENST00000544476.1 | hg38 | chr11 | 113,688,088 | 113,706,308 | 18,221 |
ENST00000299882.11 | hg38 | chr11 | 113,687,550 | 113,706,308 | 18,759 |
ENST00000540540.5 | hg38 | chr11 | 113,687,550 | 113,706,343 | 18,794 |
ENST00000545579.6 | hg19 | chr11 | 113,558,269 | 113,577,095 | 18,827 |
ENST00000536856.5 | hg19 | chr11 | 113,558,272 | 113,577,028 | 18,757 |
ENST00000299882.11 | hg19 | chr11 | 113,558,272 | 113,577,030 | 18,759 |
ENST00000540540.5 | hg19 | chr11 | 113,558,272 | 113,577,065 | 18,794 |
ENST00000538955.5 | hg19 | chr11 | 113,558,419 | 113,577,068 | 18,650 |
ENST00000544634.5 | hg19 | chr11 | 113,558,703 | 113,577,024 | 18,322 |
ENST00000544476.1 | hg19 | chr11 | 113,558,810 | 113,577,030 | 18,221 |
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