SORL1 sortilin related receptor 1

Information
Symbol
SORL1
Type
protein-coding
Description
sortilin related receptor 1
Entrez Gene ID
6653
Genome
hg19
Position
chr11:121,323,023-121,504,472
Genome
hg38
Position
chr11:121,452,314-121,633,763
MIM
602005 OMIM
HGNC
HGNC:11185 HGNC
Ensembl
ENSG00000137642 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 4
Benign 60 176
Likely benign 0 386
Conflicting classifications of pathogenicity 0 28
not provided 9 0
risk factor 0 2
Uncertain significance 0 680
Ranking
ClinVar
0
0
114
1,122
6
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 C11orf32
SYNONYM LR11
SYNONYM LRP9
SYNONYM SORLA
SYNONYM SorLA-1
SYNONYM gp250
MIM 602005 OMIM
HGNC HGNC:11185 HGNC
Ensembl ENSG00000137642 Ensembl
AllianceGenome HGNC:11185
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000527934.1 hg38 chr11 121,590,419 121,629,684 39,266
ENST00000534286.5 hg38 chr11 121,576,838 121,629,678 52,841
ENST00000260197.12 hg38 chr11 121,452,314 121,633,763 181,450
ENST00000525532.5 hg38 chr11 121,566,725 121,629,684 62,960
ENST00000532694.5 hg38 chr11 121,576,760 121,629,691 52,932
ENST00000260197.12 hg19 chr11 121,323,023 121,504,472 181,450
ENST00000525532.5 hg19 chr11 121,437,434 121,500,393 62,960
ENST00000532694.5 hg19 chr11 121,447,469 121,500,400 52,932
ENST00000534286.5 hg19 chr11 121,447,547 121,500,387 52,841
ENST00000527934.1 hg19 chr11 121,461,128 121,500,393 39,266
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