LYSET lysosomal enzyme trafficking factor

Information
Symbol
LYSET
Type
protein-coding
Description
lysosomal enzyme trafficking factor
Entrez Gene ID
26175
Genome
hg19
Position
chr14:93,651,662-93,654,808
Genome
hg38
Position
chr14:93,185,317-93,188,463
MIM
619332 OMIM
HGNC
HGNC:20218 HGNC
Ensembl
ENSG00000153485 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 2
Likely benign 0 2
Uncertain significance 0 16
Ranking
ClinVar
0
0
0
18
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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 C14orf109
SYNONYM DMAN
SYNONYM GCAF
SYNONYM TMEM251
MIM 619332 OMIM
HGNC HGNC:20218 HGNC
Ensembl ENSG00000153485 Ensembl
AllianceGenome HGNC:20218
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000415050.3 hg38 chr14 93,185,317 93,188,463 3,147
ENST00000283534.4 hg38 chr14 93,184,951 93,187,086 2,136
ENST00000283534.4 hg19 chr14 93,651,296 93,653,431 2,136
ENST00000415050.3 hg19 chr14 93,651,662 93,654,808 3,147
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