rs372748482
This variant is located in the IGF1R gene.
▶ClinVar annotation
not provided; Growth delay due to insulin-like growth factor I resistance; IGF1R-related disorder
View on ClinVar →About IGF1R
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]
View all IGF1R variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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