OTOS otospiralin
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 20 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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20 |
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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
[No Data.]
Locus Zoom
Variants
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 |
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MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | OTOSP |
MIM | 607877 OMIM |
HGNC | HGNC:22644 HGNC |
Ensembl | ENSG00000178602 Ensembl |
AllianceGenome | HGNC:22644 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000319460.2 | hg38 | chr2 | 240,139,026 | 240,140,658 | 1,633 |
ENST00000391989.6 | hg38 | chr2 | 240,139,026 | 240,144,562 | 5,537 |
ENST00000319460.2 | hg19 | chr2 | 241,078,443 | 241,080,075 | 1,633 |
ENST00000391989.6 | hg19 | chr2 | 241,078,443 | 241,083,979 | 5,537 |
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