TRPV1 transient receptor potential cation channel subfamily V member 1

Information
Symbol
TRPV1
Type
protein-coding
Description
transient receptor potential cation channel subfamily V member 1
Entrez Gene ID
7442
Genome
hg19
Position
chr17:3,468,740-3,512,705
Genome
hg38
Position
chr17:3,565,446-3,609,411
MIM
602076 OMIM
HGNC
HGNC:12716 HGNC
Ensembl
ENSG00000196689 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 14
Likely benign 0 26
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 112
Ranking
ClinVar
0
0
0
154
0
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 VR1
MIM 602076 OMIM
HGNC HGNC:12716 HGNC
Ensembl ENSG00000196689 Ensembl
AllianceGenome HGNC:12716
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000399759.7 hg38 chr17 3,565,444 3,595,831 30,388
ENST00000399756.8 hg38 chr17 3,565,794 3,592,877 27,084
ENST00000310522.5 hg38 chr17 3,566,815 3,592,350 25,536
ENST00000571088.5 hg38 chr17 3,565,444 3,597,098 31,655
ENST00000425167.6 hg38 chr17 3,566,778 3,592,367 25,590
ENST00000572705.2 hg38 chr17 3,565,446 3,609,411 43,966
ENST00000576351.5 hg38 chr17 3,566,813 3,592,383 25,571
ENST00000399759.7 hg19 chr17 3,468,738 3,499,125 30,388
ENST00000571088.5 hg19 chr17 3,468,738 3,500,392 31,655
ENST00000572705.2 hg19 chr17 3,468,740 3,512,705 43,966
ENST00000399756.8 hg19 chr17 3,469,088 3,496,171 27,084
ENST00000425167.6 hg19 chr17 3,470,072 3,495,661 25,590
ENST00000576351.5 hg19 chr17 3,470,107 3,495,677 25,571
ENST00000310522.5 hg19 chr17 3,470,109 3,495,644 25,536
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