IRS2 insulin receptor substrate 2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 2 | 0 |
| Benign | 0 | 34 |
| Likely benign | 0 | 28 |
| not provided | 35 | 0 |
| risk factor | 0 | 2 |
| Uncertain significance | 0 | 110 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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6 |
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156 |
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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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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | IRS-2 |
| MIM | 600797 OMIM |
| HGNC | HGNC:6126 HGNC |
| Ensembl | ENSG00000185950 Ensembl |
| AllianceGenome | HGNC:6126 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000375856.5 | hg38 | chr13 | 109,752,695 | 109,786,583 | 33,889 |
| ENST00000375856.5 | hg19 | chr13 | 110,405,042 | 110,438,930 | 33,889 |
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