MDN1 midasin AAA ATPase 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 114 |
Likely benign | 0 | 150 |
Conflicting classifications of pathogenicity | 0 | 8 |
Uncertain significance | 0 | 540 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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20 |
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772 |
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8 |
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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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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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 |
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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 |
---|---|
SYNONYM | Rea1 |
MIM | 618200 OMIM |
HGNC | HGNC:18302 HGNC |
Ensembl | ENSG00000112159 Ensembl |
AllianceGenome | HGNC:18302 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000369393.8 | hg38 | chr6 | 89,642,498 | 89,819,794 | 177,297 |
ENST00000369393.8 | hg19 | chr6 | 90,352,217 | 90,529,513 | 177,297 |
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