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 | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
6 |
![]() |
156 |
![]() |
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
|
Category | : |
|
Search word | : | |
Filtering | : |
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 |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
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
|
Category | : |
|
Search word | : | |
Filtering | : |
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 |
Genome browser