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
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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 | |||||
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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 | |||
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Entry | Origin | Type | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | MYOSB |
SYNONYM | PVALB |
MIM | 160000 OMIM |
HGNC | HGNC:6915 HGNC |
Ensembl | ENSG00000198125 Ensembl |
AllianceGenome | HGNC:6915 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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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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