LAT linker for activation of T cells
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 12 |
| Benign | 0 | 28 |
| Likely benign | 0 | 178 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 118 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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30 |
![]() |
300 |
![]() |
4 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| 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
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| 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
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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 | IMD52 |
| SYNONYM | LAT1 |
| SYNONYM | pp36 |
| MIM | 602354 OMIM |
| HGNC | HGNC:18874 HGNC |
| Ensembl | ENSG00000213658 Ensembl |
| AllianceGenome | HGNC:18874 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000454369.6 | hg38 | chr16 | 28,985,123 | 28,990,449 | 5,327 |
| ENST00000360872.9 | hg38 | chr16 | 28,985,340 | 28,990,773 | 5,434 |
| ENST00000566177.5 | hg38 | chr16 | 28,985,418 | 28,990,012 | 4,595 |
| ENST00000395456.7 | hg38 | chr16 | 28,985,052 | 28,990,784 | 5,733 |
| ENST00000564277.5 | hg38 | chr16 | 28,985,054 | 28,990,019 | 4,966 |
| ENST00000395461.7 | hg38 | chr16 | 28,984,826 | 28,990,783 | 5,958 |
| ENST00000395461.7 | hg19 | chr16 | 28,996,147 | 29,002,104 | 5,958 |
| ENST00000395456.7 | hg19 | chr16 | 28,996,373 | 29,002,105 | 5,733 |
| ENST00000564277.5 | hg19 | chr16 | 28,996,375 | 29,001,340 | 4,966 |
| ENST00000454369.6 | hg19 | chr16 | 28,996,444 | 29,001,770 | 5,327 |
| ENST00000360872.9 | hg19 | chr16 | 28,996,661 | 29,002,094 | 5,434 |
| ENST00000566177.5 | hg19 | chr16 | 28,996,739 | 29,001,333 | 4,595 |
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