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 |
|---|---|---|---|
| RS886044448 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS9282723 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1064793151 | Health Risk | Likely pathogenic | — |
| RS1131691583 | Health Risk | Likely pathogenic | IGF1R-related disorder, IGF1R-related disorder |
| RS1448143895 | Health Risk | Likely pathogenic | IGF1R-related disorder, IGF1R-related disorder |
| RS1555434208 | Health Risk | Likely pathogenic | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS1596214066 | Health Risk | Likely pathogenic | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS1596409872 | Health Risk | Likely pathogenic | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS1596468621 | Health Risk | Likely pathogenic | — |
| RS1596468719 | Health Risk | Likely pathogenic | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS1596476061 | Health Risk | Likely pathogenic | NK-cell enteropathy, NK-cell enteropathy |
| RS1596476163 | Health Risk | Likely pathogenic | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS2014223788 | Health Risk | Likely pathogenic | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS2141155238 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2151681264 | Health Risk | Likely pathogenic | Microcephaly, Growth delay due to insulin-like growth factor I resistance, Microcephaly |
| RS2151694492 | Health Risk | Likely pathogenic | — |
| RS2151726658 | Health Risk | Likely pathogenic | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS2505321709 | Health Risk | Likely pathogenic | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS2506023488 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2506059210 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2506069523 | Health Risk | Likely pathogenic | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS2506091121 | Health Risk | Likely pathogenic | — |
| RS886042346 | Health Risk | Likely pathogenic | — |
| RS1057524426 | Health Risk | Pathogenic | — |
| RS1322503729 | Health Risk | Pathogenic | Inborn genetic diseases, Growth delay due to insulin-like growth factor I resistance, Inborn genetic diseases |
| RS1555460702 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555462145 | Health Risk | Pathogenic | — |
| RS1555463008 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1567197213 | Health Risk | Pathogenic | — |
| RS1596214576 | Health Risk | Pathogenic | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS1596413181 | Health Risk | Pathogenic | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS1596457128 | Health Risk | Pathogenic | — |
| RS2013914972 | Health Risk | Pathogenic | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS2016082493 | Health Risk | Pathogenic | — |
| RS2141155132 | Health Risk | Pathogenic | — |
| RS2151690905 | Health Risk | Pathogenic | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS2151708486 | Health Risk | Pathogenic | — |
| RS2505514642 | Health Risk | Pathogenic | — |
| RS2505969779 | Health Risk | Pathogenic | — |
| RS2505981458 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2506014488 | Health Risk | Pathogenic | — |
| RS2506034722 | Health Risk | Pathogenic | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS746570875 | Health Risk | Pathogenic | — |
| RS774794966 | Health Risk | Pathogenic | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS1173681603 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Growth delay due to insulin-like growth factor I resistance, Intellectual disability |
| RS1596472892 | Health Risk | Pathogenic/Likely pathogenic | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS2151652750 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Growth delay due to insulin-like growth factor I resistance, Intellectual disability |
| RS2506058863 | Health Risk | Pathogenic/Likely pathogenic | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS121912426 | Protective | protective | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |
| RS121912427 | Protective | protective | Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance |