LLGL1 LLGL scribble cell polarity complex component 1
Information
- Symbol
- LLGL1
- Type
- protein-coding
- Description
- LLGL scribble cell polarity complex component 1
- Entrez Gene ID
- 3996
- Genome
- hg19
- Position
- chr17:18,128,949-18,148,189
- Genome
- hg38
- Position
- chr17:18,225,635-18,244,875
- MIM
- 600966 OMIM
- HGNC
- HGNC:6628 HGNC
- Ensembl
- ENSG00000131899 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 20 |
| Likely benign | 0 | 10 |
| not provided | 2 | 0 |
| Uncertain significance | 0 | 122 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
152 |
 |
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
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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| 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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| 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 | DLG4 |
| SYNONYM | HUGL |
| SYNONYM | HUGL-1 |
| SYNONYM | HUGL1 |
| SYNONYM | LLGL |
| SYNONYM | Lgl1 |
| SYNONYM | Mgl1 |
| MIM | 600966 OMIM |
| HGNC | HGNC:6628 HGNC |
| Ensembl | ENSG00000131899 Ensembl |
| AllianceGenome | HGNC:6628 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000316843.9 | hg38 | chr17 | 18,225,635 | 18,244,875 | 19,241 |
| ENST00000316843.9 | hg19 | chr17 | 18,128,949 | 18,148,189 | 19,241 |
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