rs6220
This is a 3 prime utr variant variant in the IGF1 gene.
▶ClinVar annotation
Growth delay due to insulin-like growth factor type 1 deficiency (IGF1D)
View on ClinVar →▶Research that mentions this SNP (2)
▶Association of a common genetic variant of the IGF-1 gene with event-free survival in patients with HER2-positive breast cancerAssociationN=161Axel Muendlein et al.(2013)· Journal of Cancer Research and Clinical Oncology
This association study examined the relationship between five IGF-1 gene SNPs and event-free survival in 161 HER2-positive breast cancer patients. The rare allele of rs2946834 was significantly associated with poor clinical outcome (HR = 4.02 [1.36-11.90]; p = 0.012 in multivariate analysis), while the other four SNPs studied showed no significant associations with survival.
▶IGF1, IGFBP1, and IGFBP3 genes and mammographic density: The Multiethnic CohortAssociationN=819Martijn Verheus et al.(2010)· International Journal of Cancer
This study investigated the association between common genetic variation in IGF1, IGFBP1, and IGFBP3 genes and mammographic density in 819 women from the Multiethnic Cohort. Only weak evidence was found for associations: rs35767 (IGF1, p=0.03) was associated with 3.2% lower mammographic density, rs35539615 (IGFBP1, p=0.05) with higher density, and rs2453839 (IGFBP3, p=0.01) with lower density. Ethnicity significantly modified the associations for IGFBP3 variants.
About IGF1
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]
View all IGF1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…