SLC7A9 solute carrier family 7 member 9

Information
Symbol
SLC7A9
Type
protein-coding
Description
solute carrier family 7 member 9
Entrez Gene ID
11136
Genome
hg19
Position
chr19:33,321,417-33,360,673
Genome
hg38
Position
chr19:32,830,511-32,869,767
MIM
604144 OMIM
HGNC
HGNC:11067 HGNC
Ensembl
ENSG00000021488 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 64
Likely pathogenic 0 48
Benign 0 124
Likely benign 0 130
Conflicting classifications of pathogenicity 0 52
Uncertain significance 0 186
Ranking
ClinVar
0
0
110
380
34
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 BAT1
SYNONYM CSNU3
MIM 604144 OMIM
HGNC HGNC:11067 HGNC
Ensembl ENSG00000021488 Ensembl
AllianceGenome HGNC:11067
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000023064.9 hg38 chr19 32,830,511 32,869,767 39,257
ENST00000590341.5 hg38 chr19 32,830,509 32,869,742 39,234
ENST00000587772.1 hg38 chr19 32,830,620 32,869,764 39,145
ENST00000590341.5 hg19 chr19 33,321,415 33,360,648 39,234
ENST00000023064.9 hg19 chr19 33,321,417 33,360,673 39,257
ENST00000587772.1 hg19 chr19 33,321,526 33,360,670 39,145
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