TPCN1 two pore segment channel 1

Information
Symbol
TPCN1
Type
protein-coding
Description
two pore segment channel 1
Entrez Gene ID
53373
Genome
hg19
Position
chr12:113,659,265-113,736,390
Genome
hg38
Position
chr12:113,221,460-113,298,585
MIM
609666 OMIM
HGNC
HGNC:18182 HGNC
Ensembl
ENSG00000186815 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 10
Uncertain significance 0 76
Ranking
ClinVar
0
0
4
90
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 :
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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 TPC1
MIM 609666 OMIM
HGNC HGNC:18182 HGNC
Ensembl ENSG00000186815 Ensembl
AllianceGenome HGNC:18182
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000392569.8 hg38 chr12 113,244,261 113,296,194 51,934
ENST00000541517.5 hg38 chr12 113,225,246 113,298,582 73,337
ENST00000550785.5 hg38 chr12 113,221,460 113,298,585 77,126
ENST00000335509.11 hg38 chr12 113,221,464 113,298,585 77,122
ENST00000335509.11 hg19 chr12 113,659,269 113,736,390 77,122
ENST00000541517.5 hg19 chr12 113,663,051 113,736,387 73,337
ENST00000392569.8 hg19 chr12 113,682,066 113,733,999 51,934
ENST00000550785.5 hg19 chr12 113,659,265 113,736,390 77,126
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