MIDN midnolin
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 12 |
not provided | 2 | 0 |
Uncertain significance | 0 | 88 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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102 |
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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
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 | Stx |
MIM | 606700 OMIM |
HGNC | HGNC:16298 HGNC |
Ensembl | ENSG00000167470 Ensembl |
AllianceGenome | HGNC:16298 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000300952.7 | hg38 | chr19 | 1,248,553 | 1,259,143 | 10,591 |
ENST00000591446.7 | hg38 | chr19 | 1,249,870 | 1,258,699 | 8,830 |
ENST00000682408.1 | hg38 | chr19 | 1,248,583 | 1,259,143 | 10,561 |
ENST00000300952.7 | hg19 | chr19 | 1,248,552 | 1,259,142 | 10,591 |
ENST00000682408.1 | hg19 | chr19 | 1,248,582 | 1,259,142 | 10,561 |
ENST00000591446.7 | hg19 | chr19 | 1,249,869 | 1,258,698 | 8,830 |
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