CMA1 chymase 1

Information
Symbol
CMA1
Type
protein-coding
Description
chymase 1
Entrez Gene ID
1215
Genome
hg19
Position
chr14:24,974,559-24,977,471
Genome
hg38
Position
chr14:24,505,353-24,508,265
MIM
118938 OMIM
HGNC
HGNC:2097 HGNC
Ensembl
ENSG00000092009 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
34
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 :
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 CYH
SYNONYM MCT1
SYNONYM chymase
MIM 118938 OMIM
HGNC HGNC:2097 HGNC
Ensembl ENSG00000092009 Ensembl
AllianceGenome HGNC:2097
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000206446.4 hg38 chr14 24,505,506 24,508,265 2,760
ENST00000250378.7 hg38 chr14 24,505,353 24,508,265 2,913
ENST00000250378.7 hg19 chr14 24,974,559 24,977,471 2,913
ENST00000206446.4 hg19 chr14 24,974,712 24,977,471 2,760
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