TPSD1 tryptase delta 1

Information
Symbol
TPSD1
Type
protein-coding
Description
tryptase delta 1
Entrez Gene ID
23430
Genome
hg19
Position
chr16:1,306,070-1,309,009
Genome
hg38
Position
chr16:1,256,069-1,259,008
MIM
609272 OMIM
HGNC
HGNC:14118 HGNC
Ensembl
ENSG00000095917 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 2
not provided 2 0
Uncertain significance 0 58
Ranking
ClinVar
0
0
0
64
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
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 MCP7-LIKE
SYNONYM MCP7L1
SYNONYM MMCP-7L
MIM 609272 OMIM
HGNC HGNC:14118 HGNC
Ensembl ENSG00000095917 Ensembl
AllianceGenome HGNC:14118
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000211076.5 hg38 chr16 1,256,069 1,259,008 2,940
ENST00000711393.1 hg38 chr16 1,256,069 1,259,008 2,940
ENST00000397534.6 hg38 chr16 1,256,059 1,258,531 2,473
ENST00000397534.6 hg19 chr16 1,306,060 1,308,532 2,473
ENST00000211076.5 hg19 chr16 1,306,070 1,309,009 2,940
ENST00000711393.1 hg19 chr16 1,306,070 1,309,009 2,940
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