MB myoglobin
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Uncertain significance | 0 | 16 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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18 |
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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 | |||||||||||
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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 | MYOSB |
| SYNONYM | PVALB |
| MIM | 160000 OMIM |
| HGNC | HGNC:6915 HGNC |
| Ensembl | ENSG00000198125 Ensembl |
| AllianceGenome | HGNC:6915 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000401702.5 | hg38 | chr22 | 35,606,764 | 35,615,713 | 8,950 |
| ENST00000359787.5 | hg38 | chr22 | 35,606,764 | 35,623,354 | 16,591 |
| ENST00000406324.5 | hg38 | chr22 | 35,607,272 | 35,622,561 | 15,290 |
| ENST00000397328.5 | hg38 | chr22 | 35,606,764 | 35,617,508 | 10,745 |
| ENST00000397326.7 | hg38 | chr22 | 35,606,764 | 35,617,329 | 10,566 |
| ENST00000401702.5 | hg19 | chr22 | 36,002,811 | 36,011,760 | 8,950 |
| ENST00000397326.7 | hg19 | chr22 | 36,002,811 | 36,013,376 | 10,566 |
| ENST00000397328.5 | hg19 | chr22 | 36,002,811 | 36,013,555 | 10,745 |
| ENST00000359787.5 | hg19 | chr22 | 36,002,811 | 36,019,401 | 16,591 |
| ENST00000406324.5 | hg19 | chr22 | 36,003,319 | 36,018,608 | 15,290 |
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