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 |
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392 |
![]() |
2 |
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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
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Category | : |
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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
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
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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