MYOCOS myocilin opposite strand

Information
Symbol
MYOCOS
Type
protein-coding
Description
myocilin opposite strand
Entrez Gene ID
110806290
Genome
hg19
Position
chr1:171,569,761-171,596,887
Genome
hg38
Position
chr1:171,600,621-171,627,747
HGNC
HGNC:53429 HGNC
Ensembl
ENSG00000283683 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 38 16
Likely pathogenic 2 44
Benign 38 18
Likely benign 8 44
Uncertain significance 4 318
Ranking
ClinVar
0
392
2
46
0
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
HGNC HGNC:53429 HGNC
Ensembl ENSG00000283683 Ensembl
AllianceGenome HGNC:53429
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000686330.1 hg38 chr1 171,622,243 171,626,888 4,646
ENST00000636788.1 hg38 chr1 171,604,120 171,626,888 22,769
ENST00000637642.2 hg38 chr1 171,622,243 171,626,888 4,646
ENST00000637303.1 hg38 chr1 171,622,216 171,638,799 16,584
ENST00000636697.1 hg38 chr1 171,600,621 171,627,747 27,127
ENST00000636697.1 hg19 chr1 171,569,761 171,596,887 27,127
ENST00000636788.1 hg19 chr1 171,573,260 171,596,028 22,769
ENST00000637303.1 hg19 chr1 171,591,356 171,607,939 16,584
ENST00000637642.2 hg19 chr1 171,591,383 171,596,028 4,646
ENST00000686330.1 hg19 chr1 171,591,383 171,596,028 4,646
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