TGFB3 transforming growth factor beta 3
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 16 | 76 |
| Likely pathogenic | 1 | 66 |
| Benign | 4 | 60 |
| Likely benign | 0 | 402 |
| Conflicting classifications of pathogenicity | 0 | 46 |
| Uncertain significance | 0 | 544 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
338 |
 |
756 |
 |
8 |
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 | |||||||||||
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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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| 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 | ARVD |
| SYNONYM | ARVD1 |
| SYNONYM | LDS5 |
| SYNONYM | RNHF |
| SYNONYM | TGF-beta3 |
| MIM | 190230 OMIM |
| HGNC | HGNC:11769 HGNC |
| Ensembl | ENSG00000119699 Ensembl |
| AllianceGenome | HGNC:11769 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000238682.8 | hg38 | chr14 | 75,958,097 | 75,981,995 | 23,899 |
| ENST00000556285.1 | hg38 | chr14 | 75,963,062 | 75,980,993 | 17,932 |
| ENST00000556674.2 | hg38 | chr14 | 75,958,116 | 75,983,011 | 24,896 |
| ENST00000238682.8 | hg19 | chr14 | 76,424,440 | 76,448,338 | 23,899 |
| ENST00000556674.2 | hg19 | chr14 | 76,424,459 | 76,449,354 | 24,896 |
| ENST00000556285.1 | hg19 | chr14 | 76,429,405 | 76,447,336 | 17,932 |
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