RILPL1 Rab interacting lysosomal protein like 1

Information
Symbol
RILPL1
Type
protein-coding
Description
Rab interacting lysosomal protein like 1
Entrez Gene ID
353116
Genome
hg19
Position
chr12:123,954,601-124,018,266
Genome
hg38
Position
chr12:123,470,054-123,533,719
MIM
614092 OMIM
HGNC
HGNC:26814 HGNC
Ensembl
ENSG00000188026 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
32
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 :
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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 GOSPEL
SYNONYM OPDM4
SYNONYM RLP1
MIM 614092 OMIM
HGNC HGNC:26814 HGNC
Ensembl ENSG00000188026 Ensembl
AllianceGenome HGNC:26814
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000376874.9 hg38 chr12 123,470,054 123,533,719 63,666
ENST00000636882.1 hg38 chr12 123,471,816 123,533,718 61,903
ENST00000376874.9 hg19 chr12 123,954,601 124,018,266 63,666
ENST00000636882.1 hg19 chr12 123,956,363 124,018,265 61,903
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