MYOZ2 myozenin 2

Information
Symbol
MYOZ2
Type
protein-coding
Description
myozenin 2
Entrez Gene ID
51778
Genome
hg19
Position
chr4:120,056,987-120,108,944
Genome
hg38
Position
chr4:119,135,832-119,187,789
MIM
605602 OMIM
HGNC
HGNC:1330 HGNC
Ensembl
ENSG00000172399 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 68
Likely benign 0 110
Conflicting classifications of pathogenicity 0 22
Uncertain significance 0 280
Ranking
ClinVar
0
0
136
304
2
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 C4orf5
SYNONYM CMH16
SYNONYM CS-1
SYNONYM FATZ-2
MIM 605602 OMIM
HGNC HGNC:1330 HGNC
Ensembl ENSG00000172399 Ensembl
AllianceGenome HGNC:1330
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000307128.6 hg38 chr4 119,135,832 119,187,789 51,958
ENST00000307128.6 hg19 chr4 120,056,987 120,108,944 51,958
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