CAPN6 calpain 6

Information
Symbol
CAPN6
Type
protein-coding
Description
calpain 6
Entrez Gene ID
827
Genome
hg19
Position
chrX:110,488,327-110,513,711
Genome
hg38
Position
chrX:111,245,099-111,270,483
MIM
300146 OMIM
HGNC
HGNC:1483 HGNC
Ensembl
ENSG00000077274 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 24
Likely benign 0 2
not provided 7 0
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
54
2
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 CANPX
SYNONYM CAPNX
SYNONYM CalpM
SYNONYM DJ914P14.1
MIM 300146 OMIM
HGNC HGNC:1483 HGNC
Ensembl ENSG00000077274 Ensembl
AllianceGenome HGNC:1483
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000324068.2 hg38 chrX 111,245,099 111,270,483 25,385
ENST00000324068.2 hg19 chrX 110,488,327 110,513,711 25,385
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