LARGE2 LARGE xylosyl- and glucuronyltransferase 2
Information
- Symbol
- LARGE2
- Type
- protein-coding
- Description
- LARGE xylosyl- and glucuronyltransferase 2
- Entrez Gene ID
- 120071
- Genome
- hg19
- Position
- chr11:45,944,207-45,950,647
- Genome
- hg38
- Position
- chr11:45,922,656-45,929,096
- MIM
- 609709 OMIM
- HGNC
- HGNC:16522 HGNC
- Ensembl
- ENSG00000165905 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 16 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
18 |
 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | GYLTL1B |
| SYNONYM | PP5656 |
| MIM | 609709 OMIM |
| HGNC | HGNC:16522 HGNC |
| Ensembl | ENSG00000165905 Ensembl |
| AllianceGenome | HGNC:16522 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000529052.5 | hg38 | chr11 | 45,921,621 | 45,929,096 | 7,476 |
| ENST00000531526.5 | hg38 | chr11 | 45,921,645 | 45,929,096 | 7,452 |
| ENST00000401752.6 | hg38 | chr11 | 45,922,656 | 45,929,096 | 6,441 |
| ENST00000325468.9 | hg38 | chr11 | 45,922,778 | 45,929,096 | 6,319 |
| ENST00000529052.5 | hg19 | chr11 | 45,943,172 | 45,950,647 | 7,476 |
| ENST00000531526.5 | hg19 | chr11 | 45,943,196 | 45,950,647 | 7,452 |
| ENST00000401752.6 | hg19 | chr11 | 45,944,207 | 45,950,647 | 6,441 |
| ENST00000325468.9 | hg19 | chr11 | 45,944,329 | 45,950,647 | 6,319 |
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