MYF5 myogenic factor 5

Information
Symbol
MYF5
Type
protein-coding
Description
myogenic factor 5
Entrez Gene ID
4617
Genome
hg19
Position
chr12:81,110,691-81,113,450
Genome
hg38
Position
chr12:80,716,912-80,719,671
MIM
159990 OMIM
HGNC
HGNC:7565 HGNC
Ensembl
ENSG00000111049 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Benign 0 2
Likely benign 0 6
Uncertain significance 0 34
Ranking
ClinVar
0
0
2
40
4
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
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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
Category :
Search word :
Filtering :
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
TypeID
SYNONYM EORVA
SYNONYM bHLHc2
MIM 159990 OMIM
HGNC HGNC:7565 HGNC
Ensembl ENSG00000111049 Ensembl
AllianceGenome HGNC:7565
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000228644.4 hg38 chr12 80,716,912 80,719,671 2,760
ENST00000228644.4 hg19 chr12 81,110,691 81,113,450 2,760
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