KLK8 kallikrein related peptidase 8
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Uncertain significance | 0 | 28 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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30 |
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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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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 | HNP |
SYNONYM | NP |
SYNONYM | NRPN |
SYNONYM | PRSS19 |
SYNONYM | TADG14 |
MIM | 605644 OMIM |
HGNC | HGNC:6369 HGNC |
Ensembl | ENSG00000129455 Ensembl |
AllianceGenome | HGNC:6369 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000600767.5 | hg38 | chr19 | 50,996,008 | 51,002,711 | 6,704 |
ENST00000391806.6 | hg38 | chr19 | 50,996,007 | 51,001,604 | 5,598 |
ENST00000593490.1 | hg38 | chr19 | 50,996,018 | 51,001,167 | 5,150 |
ENST00000291726.11 | hg38 | chr19 | 50,996,008 | 51,001,702 | 5,695 |
ENST00000320838.9 | hg38 | chr19 | 50,996,008 | 51,001,702 | 5,695 |
ENST00000695909.1 | hg38 | chr19 | 50,996,008 | 51,001,604 | 5,597 |
ENST00000347619.8 | hg38 | chr19 | 50,996,009 | 51,001,668 | 5,660 |
ENST00000391806.6 | hg19 | chr19 | 51,499,263 | 51,504,860 | 5,598 |
ENST00000695909.1 | hg19 | chr19 | 51,499,264 | 51,504,860 | 5,597 |
ENST00000291726.11 | hg19 | chr19 | 51,499,264 | 51,504,958 | 5,695 |
ENST00000320838.9 | hg19 | chr19 | 51,499,264 | 51,504,958 | 5,695 |
ENST00000600767.5 | hg19 | chr19 | 51,499,264 | 51,505,967 | 6,704 |
ENST00000347619.8 | hg19 | chr19 | 51,499,265 | 51,504,924 | 5,660 |
ENST00000593490.1 | hg19 | chr19 | 51,499,274 | 51,504,423 | 5,150 |
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