MYH7 myosin heavy chain 7
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 71 | 284 |
| Likely pathogenic | 24 | 576 |
| Benign | 8 | 444 |
| Likely benign | 0 | 2,796 |
| Conflicting classifications of pathogenicity | 0 | 870 |
| not provided | 0 | 2 |
| Uncertain significance | 4 | 4,758 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
308 |
![]() |
2,848 |
![]() |
5,292 |
![]() |
140 |
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
Search Word
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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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | CMD1S |
| SYNONYM | CMH1 |
| SYNONYM | CMYP7A |
| SYNONYM | CMYP7B |
| SYNONYM | MPD1 |
| SYNONYM | MYHCB |
| SYNONYM | SPMD |
| SYNONYM | SPMM |
| MIM | 160760 OMIM |
| HGNC | HGNC:7577 HGNC |
| Ensembl | ENSG00000092054 Ensembl |
| AllianceGenome | HGNC:7577 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000713768.1 | hg38 | chr14 | 23,412,740 | 23,435,660 | 22,921 |
| ENST00000713769.1 | hg38 | chr14 | 23,412,740 | 23,435,660 | 22,921 |
| ENST00000355349.4 | hg38 | chr14 | 23,412,740 | 23,435,660 | 22,921 |
| ENST00000355349.4 | hg19 | chr14 | 23,881,949 | 23,904,869 | 22,921 |
| ENST00000713768.1 | hg19 | chr14 | 23,881,949 | 23,904,869 | 22,921 |
| ENST00000713769.1 | hg19 | chr14 | 23,881,949 | 23,904,869 | 22,921 |
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