MYH14 myosin heavy chain 14
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 2 | 26 |
Likely pathogenic | 0 | 14 |
Benign | 20 | 434 |
Likely benign | 0 | 660 |
Conflicting classifications of pathogenicity | 0 | 166 |
not provided | 0 | 2 |
Uncertain significance | 0 | 1,152 |
Ranking
ClinVar | |
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0 |
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0 |
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494 |
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1,682 |
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30 |
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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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 |
---|---|
SYNONYM | DFNA4 |
SYNONYM | DFNA4A |
SYNONYM | FP17425 |
SYNONYM | MHC16 |
SYNONYM | MYH17 |
SYNONYM | NMHC II-C |
SYNONYM | NMHC-II-C |
SYNONYM | PNMHH |
SYNONYM | myosin |
MIM | 608568 OMIM |
HGNC | HGNC:23212 HGNC |
Ensembl | ENSG00000105357 Ensembl |
AllianceGenome | HGNC:23212 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000596571.5 | hg38 | chr19 | 50,210,366 | 50,309,790 | 99,425 |
ENST00000425460.6 | hg38 | chr19 | 50,203,622 | 50,310,540 | 106,919 |
ENST00000642316.2 | hg38 | chr19 | 50,203,622 | 50,310,540 | 106,919 |
ENST00000598205.5 | hg38 | chr19 | 50,188,186 | 50,309,790 | 121,605 |
ENST00000376970.6 | hg38 | chr19 | 50,203,628 | 50,310,542 | 106,915 |
ENST00000598205.5 | hg19 | chr19 | 50,691,443 | 50,813,047 | 121,605 |
ENST00000425460.6 | hg19 | chr19 | 50,706,879 | 50,813,797 | 106,919 |
ENST00000642316.2 | hg19 | chr19 | 50,706,879 | 50,813,797 | 106,919 |
ENST00000376970.6 | hg19 | chr19 | 50,706,885 | 50,813,799 | 106,915 |
ENST00000596571.5 | hg19 | chr19 | 50,713,623 | 50,813,047 | 99,425 |
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