SLC22A4 solute carrier family 22 member 4

Information
Symbol
SLC22A4
Type
protein-coding
Description
solute carrier family 22 member 4
Entrez Gene ID
6583
Genome
hg19
Position
chr5:131,630,087-131,679,883
Genome
hg38
Position
chr5:132,294,394-132,344,190
MIM
604190 OMIM
HGNC
HGNC:10968 HGNC
Ensembl
ENSG00000197208 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 47
Likely benign 0 92
Conflicting classifications of pathogenicity 0 2
risk factor 0 2
Uncertain significance 0 122
Ranking
ClinVar
0
0
38
219
2
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 :
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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 DFNB60
SYNONYM ETTh
SYNONYM OCTN1
MIM 604190 OMIM
HGNC HGNC:10968 HGNC
Ensembl ENSG00000197208 Ensembl
AllianceGenome HGNC:10968
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000200652.4 hg38 chr5 132,294,394 132,344,190 49,797
ENST00000200652.4 hg19 chr5 131,630,087 131,679,883 49,797
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