SPINK4 serine peptidase inhibitor Kazal type 4

Information
Symbol
SPINK4
Type
protein-coding
Description
serine peptidase inhibitor Kazal type 4
Entrez Gene ID
27290
Genome
hg19
Position
chr9:33,240,165-33,248,565
Genome
hg38
Position
chr9:33,240,167-33,248,567
MIM
613929 OMIM
HGNC
HGNC:16646 HGNC
Ensembl
ENSG00000122711 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 24
Ranking
ClinVar
0
0
0
26
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
Category :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM HEL136
SYNONYM PEC-60
SYNONYM PEC60
MIM 613929 OMIM
HGNC HGNC:16646 HGNC
Ensembl ENSG00000122711 Ensembl
AllianceGenome HGNC:16646
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000379721.4 hg38 chr9 33,240,167 33,248,567 8,401
ENST00000379725.5 hg38 chr9 33,218,365 33,248,552 30,188
ENST00000379725.5 hg19 chr9 33,218,363 33,248,550 30,188
ENST00000379721.4 hg19 chr9 33,240,165 33,248,565 8,401
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