SLC7A1 solute carrier family 7 member 1

Information
Symbol
SLC7A1
Type
protein-coding
Description
solute carrier family 7 member 1
Entrez Gene ID
6541
Genome
hg19
Position
chr13:30,083,551-30,169,825
Genome
hg38
Position
chr13:29,509,414-29,595,688
MIM
104615 OMIM
HGNC
HGNC:11057 HGNC
Ensembl
ENSG00000139514 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 12
Likely benign 0 4
Uncertain significance 0 46
Ranking
ClinVar
0
0
0
62
0
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 ATRC1
SYNONYM CAT-1
SYNONYM ERR
SYNONYM HCAT1
SYNONYM REC1L
MIM 104615 OMIM
HGNC HGNC:11057 HGNC
Ensembl ENSG00000139514 Ensembl
AllianceGenome HGNC:11057
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000380752.10 hg38 chr13 29,509,414 29,595,688 86,275
ENST00000380752.10 hg19 chr13 30,083,551 30,169,825 86,275
Genome browser