LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1
Information
- Symbol
- LAMTOR1
- Type
- protein-coding
- Description
- late endosomal/lysosomal adaptor, MAPK and MTOR activator 1
- Entrez Gene ID
- 55004
- Genome
- hg19
- Position
- chr11:71,808,338-71,814,343
- Genome
- hg38
- Position
- chr11:72,097,292-72,103,297
- MIM
- 613510 OMIM
- HGNC
- HGNC:26068 HGNC
- Ensembl
- ENSG00000149357 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 20 |
Likely benign | 0 | 34 |
Conflicting classifications of pathogenicity | 0 | 6 |
Uncertain significance | 0 | 38 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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4 |
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92 |
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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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 |
Type | ID |
---|---|
SYNONYM | C11orf59 |
SYNONYM | PDRO |
SYNONYM | Ragulator1 |
SYNONYM | p18 |
SYNONYM | p27RF-Rho |
MIM | 613510 OMIM |
HGNC | HGNC:26068 HGNC |
Ensembl | ENSG00000149357 Ensembl |
AllianceGenome | HGNC:26068 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000538404.1 | hg38 | chr11 | 72,097,348 | 72,103,236 | 5,889 |
ENST00000545249.5 | hg38 | chr11 | 72,085,895 | 72,103,246 | 17,352 |
ENST00000278671.10 | hg38 | chr11 | 72,097,292 | 72,103,297 | 6,006 |
ENST00000535107.5 | hg38 | chr11 | 72,094,438 | 72,103,237 | 8,800 |
ENST00000545249.5 | hg19 | chr11 | 71,796,941 | 71,814,292 | 17,352 |
ENST00000535107.5 | hg19 | chr11 | 71,805,484 | 71,814,283 | 8,800 |
ENST00000278671.10 | hg19 | chr11 | 71,808,338 | 71,814,343 | 6,006 |
ENST00000538404.1 | hg19 | chr11 | 71,808,394 | 71,814,282 | 5,889 |
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