MYBPC1 myosin binding protein C1

Information
Symbol
MYBPC1
Type
protein-coding
Description
myosin binding protein C1
Entrez Gene ID
4604
Genome
hg19
Position
chr12:101,988,747-102,079,647
Genome
hg38
Position
chr12:101,594,969-101,685,869
MIM
160794 OMIM
HGNC
HGNC:7549 HGNC
Ensembl
ENSG00000196091 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 12
Benign 0 258
Likely benign 0 186
Conflicting classifications of pathogenicity 0 16
Uncertain significance 0 226
Ranking
ClinVar
0
0
100
544
10
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 CMYP16
SYNONYM LCCS4
SYNONYM MYBPCC
SYNONYM MYBPCS
SYNONYM MYOTREM
SYNONYM ssMyBP-C
MIM 160794 OMIM
HGNC HGNC:7549 HGNC
Ensembl ENSG00000196091 Ensembl
AllianceGenome HGNC:7549
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000452455.6 hg38 chr12 101,594,969 101,685,869 90,901
ENST00000550270.1 hg38 chr12 101,595,071 101,684,395 89,325
ENST00000551300.5 hg38 chr12 101,594,997 101,685,869 90,873
ENST00000553190.5 hg38 chr12 101,594,984 101,685,870 90,887
ENST00000392934.7 hg38 chr12 101,594,971 101,685,806 90,836
ENST00000361466.7 hg38 chr12 101,594,971 101,686,028 91,058
ENST00000536007.5 hg38 chr12 101,594,996 101,685,615 90,620
ENST00000545503.6 hg38 chr12 101,594,996 101,685,615 90,620
ENST00000547405.5 hg38 chr12 101,594,849 101,685,811 90,963
ENST00000361685.6 hg38 chr12 101,594,971 101,685,876 90,906
ENST00000541119.5 hg38 chr12 101,594,996 101,685,615 90,620
ENST00000549145.5 hg38 chr12 101,594,971 101,686,018 91,048
ENST00000547509.5 hg38 chr12 101,594,971 101,685,812 90,842
ENST00000549608.1 hg38 chr12 101,666,203 101,685,811 19,609
ENST00000547405.5 hg19 chr12 101,988,627 102,079,589 90,963
ENST00000361466.7 hg19 chr12 101,988,749 102,079,806 91,058
ENST00000361685.6 hg19 chr12 101,988,749 102,079,654 90,906
ENST00000392934.7 hg19 chr12 101,988,749 102,079,584 90,836
ENST00000452455.6 hg19 chr12 101,988,747 102,079,647 90,901
ENST00000541119.5 hg19 chr12 101,988,774 102,079,393 90,620
ENST00000536007.5 hg19 chr12 101,988,774 102,079,393 90,620
ENST00000545503.6 hg19 chr12 101,988,774 102,079,393 90,620
ENST00000547509.5 hg19 chr12 101,988,749 102,079,590 90,842
ENST00000549145.5 hg19 chr12 101,988,749 102,079,796 91,048
ENST00000550270.1 hg19 chr12 101,988,849 102,078,173 89,325
ENST00000549608.1 hg19 chr12 102,059,981 102,079,589 19,609
ENST00000551300.5 hg19 chr12 101,988,775 102,079,647 90,873
ENST00000553190.5 hg19 chr12 101,988,762 102,079,648 90,887
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