SYNM synemin
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 89 |
Likely benign | 0 | 82 |
Conflicting classifications of pathogenicity | 0 | 10 |
Uncertain significance | 0 | 94 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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11 |
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254 |
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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
Search Word
Target data | : |
MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Target data | : |
MGeND data only
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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 |
Search Word
Target data | : |
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 | DMN |
SYNONYM | SYN |
MIM | 606087 OMIM |
HGNC | HGNC:24466 HGNC |
Ensembl | ENSG00000182253 Ensembl |
AllianceGenome | HGNC:24466 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000336292.11 | hg38 | chr15 | 99,105,080 | 99,135,593 | 30,514 |
ENST00000594047.2 | hg38 | chr15 | 99,105,080 | 99,135,583 | 30,504 |
ENST00000560674.5 | hg38 | chr15 | 99,098,217 | 99,135,593 | 37,377 |
ENST00000328642.11 | hg38 | chr15 | 99,105,080 | 99,135,583 | 30,504 |
ENST00000560674.5 | hg19 | chr15 | 99,638,420 | 99,675,798 | 37,379 |
ENST00000328642.11 | hg19 | chr15 | 99,645,286 | 99,675,788 | 30,503 |
ENST00000594047.2 | hg19 | chr15 | 99,645,286 | 99,675,788 | 30,503 |
ENST00000336292.11 | hg19 | chr15 | 99,645,286 | 99,675,798 | 30,513 |
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