IGF1 Chromosome 12
Insulin like growth factor 1
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What This Gene Does
The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
Gene Info
Gene Group
"Neuropeptides|Insulin family"
Locus Type
gene with protein product
Location
12q23.2
Ensembl
ENSG00000017427
Associated Conditions (2)
Growth delay due to insulin-like growth factor type 1 deficiency
IGF1-related disorder
Key Variants
RS121912430
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor type 1 deficiency, Growth delay due to insulin-like growth factor type 1 deficiency
Health Risk
RS147960415
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor type 1 deficiency, Growth delay due to insulin-like growth factor type 1 deficiency
Health Risk
RS373202198
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor type 1 deficiency, Growth delay due to insulin-like growth factor type 1 deficiency
Health Risk
RS374228630
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor type 1 deficiency, IGF1-related disorder, Growth delay due to insulin-like growth factor type 1 deficiency
Health Risk
RS761202967
Conflicting classifications of pathogenicity
Growth delay due to insulin-like growth factor type 1 deficiency, Growth delay due to insulin-like growth factor type 1 deficiency
Health Risk
RS1566009282
Likely pathogenic
Health Risk
RS1592837549
Likely pathogenic
Growth delay due to insulin-like growth factor type 1 deficiency, Growth delay due to insulin-like growth factor type 1 deficiency
Health Risk
RS2499846981
Likely pathogenic
Health Risk
RS3730193
Likely pathogenic
Growth delay due to insulin-like growth factor type 1 deficiency, Growth delay due to insulin-like growth factor type 1 deficiency
Health Risk
RS2137303448
Pathogenic
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121912430 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor type 1 deficiency, Growth delay due to insulin-like growth factor type 1 deficiency |
| RS147960415 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor type 1 deficiency, Growth delay due to insulin-like growth factor type 1 deficiency |
| RS373202198 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor type 1 deficiency, Growth delay due to insulin-like growth factor type 1 deficiency |
| RS374228630 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor type 1 deficiency, IGF1-related disorder, Growth delay due to insulin-like growth factor type 1 deficiency |
| RS761202967 | Health Risk | Conflicting classifications of pathogenicity | Growth delay due to insulin-like growth factor type 1 deficiency, Growth delay due to insulin-like growth factor type 1 deficiency |
| RS1566009282 | Health Risk | Likely pathogenic | — |
| RS1592837549 | Health Risk | Likely pathogenic | Growth delay due to insulin-like growth factor type 1 deficiency, Growth delay due to insulin-like growth factor type 1 deficiency |
| RS2499846981 | Health Risk | Likely pathogenic | — |
| RS3730193 | Health Risk | Likely pathogenic | Growth delay due to insulin-like growth factor type 1 deficiency, Growth delay due to insulin-like growth factor type 1 deficiency |
| RS2137303448 | Health Risk | Pathogenic | — |