SLC12A5 solute carrier family 12 member 5

Information
Symbol
SLC12A5
Type
protein-coding
Description
solute carrier family 12 member 5
Entrez Gene ID
57468
Genome
hg19
Position
chr20:44,650,329-44,686,341
Genome
hg38
Position
chr20:46,021,690-46,057,702
MIM
606726 OMIM
HGNC
HGNC:13818 HGNC
Ensembl
ENSG00000124140 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 12 48
Likely pathogenic 6 24
Benign 0 80
Likely benign 0 844
Conflicting classifications of pathogenicity 0 32
not provided 1 12
Uncertain significance 0 684
Ranking
ClinVar
0
0
116
1,550
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
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 DEE34
SYNONYM EIEE34
SYNONYM EIG14
SYNONYM KCC2
SYNONYM hKCC2
MIM 606726 OMIM
HGNC HGNC:13818 HGNC
Ensembl ENSG00000124140 Ensembl
AllianceGenome HGNC:13818
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000454036.6 hg38 chr20 46,021,690 46,057,702 36,013
ENST00000628272.1 hg38 chr20 46,021,699 46,023,581 1,883
ENST00000626937.2 hg38 chr20 46,029,182 46,060,150 30,969
ENST00000616933.4 hg38 chr20 46,029,182 46,060,150 30,969
ENST00000616202.4 hg38 chr20 46,029,182 46,060,150 30,969
ENST00000626701.1 hg38 chr20 46,021,712 46,023,581 1,870
ENST00000243964.7 hg38 chr20 46,029,215 46,060,150 30,936
ENST00000454036.6 hg19 chr20 44,650,329 44,686,341 36,013
ENST00000628272.1 hg19 chr20 44,650,338 44,652,220 1,883
ENST00000243964.7 hg19 chr20 44,657,854 44,688,789 30,936
ENST00000626937.2 hg19 chr20 44,657,821 44,688,789 30,969
ENST00000616933.4 hg19 chr20 44,657,821 44,688,789 30,969
ENST00000616202.4 hg19 chr20 44,657,821 44,688,789 30,969
ENST00000626701.1 hg19 chr20 44,650,351 44,652,220 1,870
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