MYO1A myosin IA

Information
Symbol
MYO1A
Type
protein-coding
Description
myosin IA
Entrez Gene ID
4640
Genome
hg19
Position
chr12:57,422,301-57,444,549
Genome
hg38
Position
chr12:57,028,517-57,050,765
MIM
601478 OMIM
HGNC
HGNC:7595 HGNC
Ensembl
ENSG00000166866 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 14 70
Likely benign 0 100
Conflicting classifications of pathogenicity 0 34
Uncertain significance 0 132
Ranking
ClinVar
0
0
44
232
12
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 BBMI
SYNONYM DFNA48
SYNONYM MIHC
SYNONYM MYHL
MIM 601478 OMIM
HGNC HGNC:7595 HGNC
Ensembl ENSG00000166866 Ensembl
AllianceGenome HGNC:7595
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000442789.6 hg38 chr12 57,028,517 57,050,765 22,249
ENST00000300119.8 hg38 chr12 57,028,517 57,050,129 21,613
ENST00000300119.8 hg19 chr12 57,422,301 57,443,913 21,613
ENST00000442789.6 hg19 chr12 57,422,301 57,444,549 22,249
Genome browser