LTBP4 latent transforming growth factor beta binding protein 4
Information
- Symbol
- LTBP4
- Type
- protein-coding
- Description
- latent transforming growth factor beta binding protein 4
- Entrez Gene ID
- 8425
- Genome
- hg19
- Position
- chr19:41,103,141-41,135,528
- Genome
- hg38
- Position
- chr19:40,597,235-40,629,623
- MIM
- 604710 OMIM
- HGNC
- HGNC:6717 HGNC
- Ensembl
- ENSG00000090006 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 8 | 56 |
| Likely pathogenic | 0 | 34 |
| Benign | 0 | 202 |
| Likely benign | 0 | 682 |
| Conflicting classifications of pathogenicity | 0 | 70 |
| not provided | 0 | 6 |
| Uncertain significance | 0 | 838 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
368 |
 |
1,384 |
 |
16 |
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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| 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 | : |
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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 | ARCL1C |
| SYNONYM | LTBP-4 |
| SYNONYM | LTBP4L |
| SYNONYM | LTBP4S |
| MIM | 604710 OMIM |
| HGNC | HGNC:6717 HGNC |
| Ensembl | ENSG00000090006 Ensembl |
| AllianceGenome | HGNC:6717 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000396819.8 | hg38 | chr19 | 40,601,369 | 40,629,818 | 28,450 |
| ENST00000204005.13 | hg38 | chr19 | 40,593,166 | 40,629,818 | 36,653 |
| ENST00000308370.11 | hg38 | chr19 | 40,597,235 | 40,629,623 | 32,389 |
| ENST00000204005.13 | hg19 | chr19 | 41,099,072 | 41,135,723 | 36,652 |
| ENST00000308370.11 | hg19 | chr19 | 41,103,141 | 41,135,528 | 32,388 |
| ENST00000396819.8 | hg19 | chr19 | 41,107,275 | 41,135,723 | 28,449 |
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