IGF1 insulin like growth factor 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Likely pathogenic | 0 | 8 |
| Benign | 0 | 52 |
| Likely benign | 0 | 62 |
| Conflicting classifications of pathogenicity | 0 | 8 |
| not provided | 11 | 0 |
| Uncertain significance | 0 | 236 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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18 |
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330 |
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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
Search Word
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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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| 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 | IGF |
| SYNONYM | IGF-I |
| SYNONYM | IGFI |
| SYNONYM | MGF |
| MIM | 147440 OMIM |
| HGNC | HGNC:5464 HGNC |
| Ensembl | ENSG00000017427 Ensembl |
| AllianceGenome | HGNC:5464 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000644491.1 | hg38 | chr12 | 102,402,328 | 102,481,744 | 79,417 |
| ENST00000337514.11 | hg38 | chr12 | 102,395,874 | 102,480,563 | 84,690 |
| ENST00000392904.5 | hg38 | chr12 | 102,402,328 | 102,480,638 | 78,311 |
| ENST00000392905.7 | hg38 | chr12 | 102,402,517 | 102,480,610 | 78,094 |
| ENST00000424202.6 | hg38 | chr12 | 102,402,459 | 102,478,651 | 76,193 |
| ENST00000307046.8 | hg38 | chr12 | 102,417,491 | 102,480,563 | 63,073 |
| ENST00000337514.11 | hg19 | chr12 | 102,789,652 | 102,874,341 | 84,690 |
| ENST00000392904.5 | hg19 | chr12 | 102,796,106 | 102,874,416 | 78,311 |
| ENST00000644491.1 | hg19 | chr12 | 102,796,106 | 102,875,522 | 79,417 |
| ENST00000424202.6 | hg19 | chr12 | 102,796,237 | 102,872,429 | 76,193 |
| ENST00000392905.7 | hg19 | chr12 | 102,796,295 | 102,874,388 | 78,094 |
| ENST00000307046.8 | hg19 | chr12 | 102,811,269 | 102,874,341 | 63,073 |
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