TRPV5 transient receptor potential cation channel subfamily V member 5

Information
Symbol
TRPV5
Type
protein-coding
Description
transient receptor potential cation channel subfamily V member 5
Entrez Gene ID
56302
Genome
hg19
Position
chr7:142,605,267-142,630,843
Genome
hg38
Position
chr7:142,908,101-142,933,746
MIM
606679 OMIM
HGNC
HGNC:3145 HGNC
Ensembl
ENSG00000127412 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 9
Likely benign 0 10
Uncertain significance 0 80
Ranking
ClinVar
0
0
0
85
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 :
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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 CAT2
SYNONYM ECAC1
SYNONYM OTRPC3
MIM 606679 OMIM
HGNC HGNC:3145 HGNC
Ensembl ENSG00000127412 Ensembl
AllianceGenome HGNC:3145
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000442623.1 hg38 chr7 142,924,795 142,933,723 8,929
ENST00000265310.6 hg38 chr7 142,908,101 142,933,746 25,646
ENST00000265310.6 hg19 chr7 142,605,267 142,630,843 25,577
ENST00000442623.1 hg19 chr7 142,621,890 142,630,820 8,931
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