BMP4 bone morphogenetic protein 4
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 18 |
| Likely pathogenic | 0 | 12 |
| Benign | 10 | 40 |
| Likely benign | 0 | 90 |
| Conflicting classifications of pathogenicity | 0 | 54 |
| Uncertain significance | 0 | 218 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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52 |
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284 |
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26 |
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
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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 | BMP2B |
| SYNONYM | BMP2B1 |
| SYNONYM | MCOPS6 |
| SYNONYM | OFC11 |
| SYNONYM | ZYME |
| MIM | 112262 OMIM |
| HGNC | HGNC:1071 HGNC |
| Ensembl | ENSG00000125378 Ensembl |
| AllianceGenome | HGNC:1071 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000559087.5 | hg38 | chr14 | 53,949,736 | 53,956,811 | 7,076 |
| ENST00000558984.1 | hg38 | chr14 | 53,949,741 | 53,953,455 | 3,715 |
| ENST00000417573.5 | hg38 | chr14 | 53,949,739 | 53,954,552 | 4,814 |
| ENST00000245451.9 | hg38 | chr14 | 53,949,736 | 53,956,825 | 7,090 |
| ENST00000559087.5 | hg19 | chr14 | 54,416,454 | 54,423,529 | 7,076 |
| ENST00000245451.9 | hg19 | chr14 | 54,416,454 | 54,423,543 | 7,090 |
| ENST00000417573.5 | hg19 | chr14 | 54,416,457 | 54,421,270 | 4,814 |
| ENST00000558984.1 | hg19 | chr14 | 54,416,459 | 54,420,173 | 3,715 |
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