MATN3 matrilin 3
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 12 |
Likely pathogenic | 0 | 8 |
Benign | 20 | 54 |
Likely benign | 0 | 124 |
Conflicting classifications of pathogenicity | 0 | 30 |
not provided | 0 | 10 |
Uncertain significance | 0 | 304 |
Ranking
ClinVar | |
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0 |
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0 |
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78 |
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404 |
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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
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 |
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SYNONYM | DIPOA |
SYNONYM | EDM5 |
SYNONYM | HOA |
SYNONYM | OADIP |
SYNONYM | OS2 |
SYNONYM | SEMDBCD |
MIM | 602109 OMIM |
HGNC | HGNC:6909 HGNC |
Ensembl | ENSG00000132031 Ensembl |
AllianceGenome | HGNC:6909 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000421259.2 | hg38 | chr2 | 19,993,037 | 20,012,665 | 19,629 |
ENST00000407540.8 | hg38 | chr2 | 19,992,052 | 20,012,668 | 20,617 |
ENST00000407540.8 | hg19 | chr2 | 20,191,813 | 20,212,429 | 20,617 |
ENST00000421259.2 | hg19 | chr2 | 20,192,798 | 20,212,426 | 19,629 |
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