MYH8 myosin heavy chain 8
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 50 | 152 |
Likely benign | 0 | 132 |
Conflicting classifications of pathogenicity | 0 | 46 |
Uncertain significance | 0 | 422 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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106 |
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554 |
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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
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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 | DA7 |
SYNONYM | MyHC-peri |
SYNONYM | MyHC-pn |
SYNONYM | gtMHC-F |
MIM | 160741 OMIM |
HGNC | HGNC:7578 HGNC |
Ensembl | ENSG00000133020 Ensembl |
AllianceGenome | HGNC:7578 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000403437.2 | hg38 | chr17 | 10,390,322 | 10,421,950 | 31,629 |
ENST00000403437.2 | hg19 | chr17 | 10,293,639 | 10,325,267 | 31,629 |
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