CAV3 caveolin 3

Information
Symbol
CAV3
Type
protein-coding
Description
caveolin 3
Entrez Gene ID
859
Genome
hg19
Position
chr3:8,775,488-8,788,444
Genome
hg38
Position
chr3:8,733,802-8,746,758
MIM
601253 OMIM
HGNC
HGNC:1529 HGNC
Ensembl
ENSG00000182533 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 3 30
Likely pathogenic 4 20
Benign 0 96
Likely benign 0 190
Conflicting classifications of pathogenicity 0 76
not provided 0 38
risk factor 0 2
Uncertain significance 0 298
Ranking
ClinVar
0
0
204
364
18
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 LGMD1C
SYNONYM LQT9
SYNONYM MPDT
SYNONYM RMD2
SYNONYM VIP-21
SYNONYM VIP21
MIM 601253 OMIM
HGNC HGNC:1529 HGNC
Ensembl ENSG00000182533 Ensembl
AllianceGenome HGNC:1529
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000343849.3 hg38 chr3 8,733,802 8,746,758 12,957
ENST00000397368.2 hg38 chr3 8,733,866 8,746,756 12,891
ENST00000343849.3 hg19 chr3 8,775,488 8,788,444 12,957
ENST00000397368.2 hg19 chr3 8,775,552 8,788,442 12,891
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