CAVIN1 caveolae associated protein 1

Information
Symbol
CAVIN1
Type
protein-coding
Description
caveolae associated protein 1
Entrez Gene ID
284119
Genome
hg19
Position
chr17:40,554,467-40,575,274
Genome
hg38
Position
chr17:42,402,449-42,423,256
MIM
603198 OMIM
HGNC
HGNC:9688 HGNC
Ensembl
ENSG00000177469 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 8
Benign 0 44
Likely benign 0 52
Conflicting classifications of pathogenicity 0 18
Uncertain significance 0 130
Ranking
ClinVar
0
0
20
214
16
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 CAVIN
SYNONYM CGL4
SYNONYM FKSG13
SYNONYM PTRF
SYNONYM cavin-1
MIM 603198 OMIM
HGNC HGNC:9688 HGNC
Ensembl ENSG00000177469 Ensembl
AllianceGenome HGNC:9688
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000357037.6 hg38 chr17 42,402,449 42,423,256 20,808
ENST00000357037.6 hg19 chr17 40,554,467 40,575,274 20,808
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