MYH13 myosin heavy chain 13
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 22 |
Conflicting classifications of pathogenicity | 0 | 4 |
Uncertain significance | 0 | 264 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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290 |
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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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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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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 | MyHC-IIL |
SYNONYM | MyHC-eo |
MIM | 603487 OMIM |
HGNC | HGNC:7571 HGNC |
Ensembl | ENSG00000006788 Ensembl |
AllianceGenome | HGNC:7571 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000252172.9 | hg38 | chr17 | 10,300,865 | 10,373,006 | 72,142 |
ENST00000418404.8 | hg38 | chr17 | 10,300,865 | 10,373,130 | 72,266 |
ENST00000621918.1 | hg38 | chr17 | 10,300,866 | 10,364,544 | 63,679 |
ENST00000252172.9 | hg19 | chr17 | 10,204,182 | 10,276,323 | 72,142 |
ENST00000418404.8 | hg19 | chr17 | 10,204,182 | 10,276,447 | 72,266 |
ENST00000621918.1 | hg19 | chr17 | 10,204,183 | 10,267,861 | 63,679 |
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