CAV1 caveolin 1

Information
Symbol
CAV1
Type
protein-coding
Description
caveolin 1
Entrez Gene ID
857
Genome
hg19
Position
chr7:116,165,090-116,201,233
Genome
hg38
Position
chr7:116,525,036-116,561,179
MIM
601047 OMIM
HGNC
HGNC:1527 HGNC
Ensembl
ENSG00000105974 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 6
Benign 0 38
Likely benign 0 104
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 78
Ranking
ClinVar
0
0
60
160
10
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 BSCL3
SYNONYM CGL3
SYNONYM LCCNS
SYNONYM MSTP085
SYNONYM PPH3
SYNONYM VIP21
MIM 601047 OMIM
HGNC HGNC:1527 HGNC
Ensembl ENSG00000105974 Ensembl
AllianceGenome HGNC:1527
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000393470.1 hg38 chr7 116,525,001 116,559,319 34,319
ENST00000405348.6 hg38 chr7 116,525,531 116,561,179 35,649
ENST00000393468.1 hg38 chr7 116,526,277 116,559,513 33,237
ENST00000393467.1 hg38 chr7 116,526,293 116,561,176 34,884
ENST00000341049.7 hg38 chr7 116,525,036 116,561,179 36,144
ENST00000614113.5 hg38 chr7 116,524,994 116,559,633 34,640
ENST00000614113.5 hg19 chr7 116,165,048 116,199,687 34,640
ENST00000393470.1 hg19 chr7 116,165,055 116,199,373 34,319
ENST00000341049.7 hg19 chr7 116,165,090 116,201,233 36,144
ENST00000405348.6 hg19 chr7 116,165,585 116,201,233 35,649
ENST00000393468.1 hg19 chr7 116,166,331 116,199,567 33,237
ENST00000393467.1 hg19 chr7 116,166,347 116,201,230 34,884
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