HVCN1 hydrogen voltage gated channel 1

Information
Symbol
HVCN1
Type
protein-coding
Description
hydrogen voltage gated channel 1
Entrez Gene ID
84329
Genome
hg19
Position
chr12:111,086,602-111,126,514
Genome
hg38
Position
chr12:110,648,797-110,688,709
MIM
611227 OMIM
HGNC
HGNC:28240 HGNC
Ensembl
ENSG00000122986 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 26
Likely pathogenic 0 32
Benign 0 38
Likely benign 0 242
Conflicting classifications of pathogenicity 0 22
Uncertain significance 0 230
Ranking
ClinVar
0
0
94
454
4
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 HV1
SYNONYM VSOP
MIM 611227 OMIM
HGNC HGNC:28240 HGNC
Ensembl ENSG00000122986 Ensembl
AllianceGenome HGNC:28240
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000548312.5 hg38 chr12 110,627,841 110,689,417 61,577
ENST00000356742.9 hg38 chr12 110,648,797 110,688,709 39,913
ENST00000242607.13 hg38 chr12 110,648,686 110,689,115 40,430
ENST00000620084.4 hg38 chr12 110,648,686 110,683,267 34,582
ENST00000439744.6 hg38 chr12 110,649,133 110,689,778 40,646
ENST00000548312.5 hg19 chr12 111,065,646 111,127,222 61,577
ENST00000620084.4 hg19 chr12 111,086,491 111,121,072 34,582
ENST00000242607.13 hg19 chr12 111,086,491 111,126,920 40,430
ENST00000356742.9 hg19 chr12 111,086,602 111,126,514 39,913
ENST00000439744.6 hg19 chr12 111,086,938 111,127,583 40,646
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