LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2

Information
Symbol
LAMTOR2
Type
protein-coding
Description
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
Entrez Gene ID
28956
Genome
hg19
Position
chr1:156,024,573-156,028,297
Genome
hg38
Position
chr1:156,054,782-156,058,506
MIM
610389 OMIM
HGNC
HGNC:29796 HGNC
Ensembl
ENSG00000116586 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 58
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 56
Ranking
ClinVar
0
0
10
108
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 ENDAP
SYNONYM HSPC003
SYNONYM MAPBPIP
SYNONYM MAPKSP1AP
SYNONYM ROBLD3
SYNONYM Ragulator2
SYNONYM p14
MIM 610389 OMIM
HGNC HGNC:29796 HGNC
Ensembl ENSG00000116586 Ensembl
AllianceGenome HGNC:29796
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368304.9 hg38 chr1 156,054,792 156,058,506 3,715
ENST00000368305.9 hg38 chr1 156,054,782 156,058,506 3,725
ENST00000368302.3 hg38 chr1 156,054,850 156,058,503 3,654
ENST00000368305.9 hg19 chr1 156,024,573 156,028,297 3,725
ENST00000368304.9 hg19 chr1 156,024,583 156,028,297 3,715
ENST00000368302.3 hg19 chr1 156,024,641 156,028,294 3,654
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