ETHE1 ETHE1 persulfide dioxygenase

Information
Symbol
ETHE1
Type
protein-coding
Description
ETHE1 persulfide dioxygenase
Entrez Gene ID
23474
Genome
hg19
Position
chr19:44,010,871-44,031,353
Genome
hg38
Position
chr19:43,506,719-43,527,201
MIM
608451 OMIM
HGNC
HGNC:23287 HGNC
Ensembl
ENSG00000105755 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 82
Likely pathogenic 0 72
Benign 0 44
Likely benign 0 420
Conflicting classifications of pathogenicity 0 18
not provided 1 14
Uncertain significance 0 140
Ranking
ClinVar
0
36
72
622
12
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 HSCO
SYNONYM YF13H12
MIM 608451 OMIM
HGNC HGNC:23287 HGNC
Ensembl ENSG00000105755 Ensembl
AllianceGenome HGNC:23287
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000292147.7 hg38 chr19 43,506,719 43,527,201 20,483
ENST00000600651.5 hg38 chr19 43,507,628 43,527,201 19,574
ENST00000292147.7 hg19 chr19 44,010,871 44,031,353 20,483
ENST00000600651.5 hg19 chr19 44,011,780 44,031,353 19,574
Genome browser