SORT1 sortilin 1

Information
Symbol
SORT1
Type
protein-coding
Description
sortilin 1
Entrez Gene ID
6272
Genome
hg19
Position
chr1:109,852,197-109,940,540
Genome
hg38
Position
chr1:109,309,575-109,397,918
MIM
602458 OMIM
HGNC
HGNC:11186 HGNC
Ensembl
ENSG00000134243 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 16
Likely benign 0 16
not provided 1 0
Uncertain significance 0 40
Ranking
ClinVar
0
0
0
72
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
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 Gp95
SYNONYM LDLCQ6
SYNONYM NT3
SYNONYM NTR3
MIM 602458 OMIM
HGNC HGNC:11186 HGNC
Ensembl ENSG00000134243 Ensembl
AllianceGenome HGNC:11186
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000256637.8 hg38 chr1 109,309,575 109,397,918 88,344
ENST00000538502.5 hg38 chr1 109,309,568 109,393,357 83,790
ENST00000538502.5 hg19 chr1 109,852,190 109,935,979 83,790
ENST00000256637.8 hg19 chr1 109,852,197 109,940,540 88,344
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