IGF1R Chromosome 15
Insulin like growth factor 1 receptor
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What This Gene Does
This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Gene Info
Gene Group
"CD molecules|Fibronectin type III domain containing|MicroRNA protein coding host genes|Insulin receptor family"
Locus Type
gene with protein product
Location
15q26.3
Ensembl
ENSG00000140443
Associated Conditions (7)
Growth delay due to insulin-like growth factor I resistance
IGF1R-related disorder
Inborn genetic diseases
NK-cell enteropathy
Neurodevelopmental disorder
Microcephaly
Intellectual disability
Key Variants
RS117440569
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS1250642880
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS141802822
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS144739747
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS145668206
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS146902252
Conflicting classifications of pathogenicity
Health Risk
RS149417802
Conflicting classifications of pathogenicity
Health Risk
RS1596476159
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, Inborn genetic diseases, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS200261849
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS200740840
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS201351992
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
Health Risk
RS202060277
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
Health Risk
All Variants (104)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117440569 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder, Growth delay due to insulin-like growth factor I resistance |
| RS1250642880 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS141802822 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS144739747 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder, Growth delay due to insulin-like growth factor I resistance |
| RS145668206 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS146902252 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149417802 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1596476159 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Inborn genetic diseases, Growth delay due to insulin-like growth factor I resistance |
| RS200261849 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS200740840 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS201351992 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS202060277 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS2151674130 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS2151719218 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS33958176 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder, Growth delay due to insulin-like growth factor I resistance |
| RS34129005 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS34313885 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS34364279 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS34530803 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS35315829 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS35701313 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS369481117 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS370196264 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370500527 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder, Growth delay due to insulin-like growth factor I resistance |
| RS372748482 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder, Growth delay due to insulin-like growth factor I resistance |
| RS375579623 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Inborn genetic diseases, Growth delay due to insulin-like growth factor I resistance |
| RS377109735 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder, Growth delay due to insulin-like growth factor I resistance |
| RS45451896 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS45493995 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS45495500 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS45598038 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder, Growth delay due to insulin-like growth factor I resistance |
| RS45598332 | Health Risk | Conflicting classifications of pathogenicity | IGF1R-related disorder, IGF1R-related disorder |
| RS531850849 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS543792941 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS55895813 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS562335164 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS56248469 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Inborn genetic diseases, Growth delay due to insulin-like growth factor I resistance |
| RS56303650 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder, Growth delay due to insulin-like growth factor I resistance |
| RS70958400 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS748082314 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS750280055 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS754035007 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754603546 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS757589571 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS764448697 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS764671728 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS767356585 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS769964962 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS773154665 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS886043360 | Health Risk | Conflicting classifications of pathogenicity | — |