MID2 midline 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 14 |
Likely benign | 0 | 18 |
Conflicting classifications of pathogenicity | 0 | 8 |
not provided | 6 | 0 |
Uncertain significance | 0 | 66 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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10 |
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88 |
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6 |
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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Category | : |
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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 | FXY2 |
SYNONYM | MRX101 |
SYNONYM | RNF60 |
SYNONYM | TRIM1 |
SYNONYM | XLID101 |
MIM | 300204 OMIM |
HGNC | HGNC:7096 HGNC |
Ensembl | ENSG00000080561 Ensembl |
AllianceGenome | HGNC:7096 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000262843.11 | hg38 | chrX | 107,825,866 | 107,931,637 | 105,772 |
ENST00000443968.2 | hg38 | chrX | 107,826,414 | 107,927,193 | 100,780 |
ENST00000262843.11 | hg19 | chrX | 107,069,096 | 107,174,867 | 105,772 |
ENST00000443968.2 | hg19 | chrX | 107,069,644 | 107,170,423 | 100,780 |
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