MAP7D3 MAP7 domain containing 3
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 12 |
Likely benign | 0 | 32 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 6 | 0 |
Uncertain significance | 0 | 82 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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6 |
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118 |
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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 |
Search Word
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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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | MDP3 |
MIM | 300930 OMIM |
HGNC | HGNC:25742 HGNC |
Ensembl | ENSG00000129680 Ensembl |
AllianceGenome | HGNC:25742 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000316077.14 | hg38 | chrX | 136,216,814 | 136,251,400 | 34,587 |
ENST00000370661.5 | hg38 | chrX | 136,213,220 | 136,251,371 | 38,152 |
ENST00000370663.9 | hg38 | chrX | 136,216,820 | 136,256,482 | 39,663 |
ENST00000370661.5 | hg19 | chrX | 135,295,379 | 135,333,530 | 38,152 |
ENST00000316077.14 | hg19 | chrX | 135,298,973 | 135,333,559 | 34,587 |
ENST00000370663.9 | hg19 | chrX | 135,298,979 | 135,338,641 | 39,663 |
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