MYH3 myosin heavy chain 3

Information
Symbol
MYH3
Type
protein-coding
Description
myosin heavy chain 3
Entrez Gene ID
4621
Genome
hg19
Position
chr17:10,531,849-10,560,626
Genome
hg38
Position
chr17:10,628,532-10,657,309
MIM
160720 OMIM
HGNC
HGNC:7573 HGNC
Ensembl
ENSG00000109063 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 98
Likely pathogenic 0 104
Benign 32 330
Likely benign 0 1,018
Conflicting classifications of pathogenicity 0 164
no classification for the single variant 0 4
Uncertain significance 0 1,240
Ranking
ClinVar
0
0
426
2,208
44
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
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 CPSFS1A
SYNONYM CPSFS1B
SYNONYM CPSKF1A
SYNONYM CPSKF1B
SYNONYM DA2A
SYNONYM DA2B
SYNONYM DA2B3
SYNONYM DA8
SYNONYM HEMHC
SYNONYM MYHC-EMB
SYNONYM MYHSE1
SYNONYM SMHCE
MIM 160720 OMIM
HGNC HGNC:7573 HGNC
Ensembl ENSG00000109063 Ensembl
AllianceGenome HGNC:7573
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000583535.6 hg38 chr17 10,628,532 10,657,309 28,778
ENST00000583535.6 hg19 chr17 10,531,849 10,560,626 28,778
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