KLK4 kallikrein related peptidase 4
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 8 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 39 |
Likely benign | 0 | 4 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 26 |
Ranking
ClinVar | |
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0 |
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0 |
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9 |
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66 |
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6 |
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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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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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 | AI2A1 |
SYNONYM | ARM1 |
SYNONYM | EMSP |
SYNONYM | EMSP1 |
SYNONYM | KLK-L1 |
SYNONYM | PRSS17 |
SYNONYM | PSTS |
SYNONYM | kallikrein |
MIM | 603767 OMIM |
HGNC | HGNC:6365 HGNC |
Ensembl | ENSG00000167749 Ensembl |
AllianceGenome | HGNC:6365 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000324041.6 | hg38 | chr19 | 50,906,351 | 50,911,395 | 5,045 |
ENST00000431178.2 | hg38 | chr19 | 50,906,934 | 50,909,328 | 2,395 |
ENST00000324041.6 | hg19 | chr19 | 51,409,607 | 51,414,651 | 5,045 |
ENST00000431178.2 | hg19 | chr19 | 51,410,190 | 51,412,584 | 2,395 |
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