RILPL2 Rab interacting lysosomal protein like 2

Information
Symbol
RILPL2
Type
protein-coding
Description
Rab interacting lysosomal protein like 2
Entrez Gene ID
196383
Genome
hg19
Position
chr12:123,899,586-123,921,231
Genome
hg38
Position
chr12:123,415,039-123,436,684
MIM
614093 OMIM
HGNC
HGNC:28787 HGNC
Ensembl
ENSG00000150977 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
26
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 RLP2
MIM 614093 OMIM
HGNC HGNC:28787 HGNC
Ensembl ENSG00000150977 Ensembl
AllianceGenome HGNC:28787
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000280571.10 hg38 chr12 123,415,039 123,436,684 21,646
ENST00000280571.10 hg19 chr12 123,899,586 123,921,231 21,646
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