PACC1 proton activated chloride channel 1

Information
Symbol
PACC1
Type
protein-coding
Description
proton activated chloride channel 1
Entrez Gene ID
55248
Genome
hg19
Position
chr1:212,537,818-212,588,243
Genome
hg38
Position
chr1:212,364,476-212,414,901
MIM
618427 OMIM
HGNC
HGNC:25593 HGNC
Ensembl
ENSG00000065600 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 42
Ranking
ClinVar
0
0
0
44
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 ASOR
SYNONYM C1orf75
SYNONYM PAC
SYNONYM PAORAC
SYNONYM TMEM206
SYNONYM hPAC
SYNONYM hTMEM206
MIM 618427 OMIM
HGNC HGNC:25593 HGNC
Ensembl ENSG00000065600 Ensembl
AllianceGenome HGNC:25593
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000535273.2 hg38 chr1 212,364,476 212,414,901 50,426
ENST00000261455.9 hg38 chr1 212,363,928 212,414,886 50,959
ENST00000261455.9 hg19 chr1 212,537,270 212,588,228 50,959
ENST00000535273.2 hg19 chr1 212,537,818 212,588,243 50,426
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