rs546707849

This variant is located in the IGF1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Growth delay due to insulin-like growth factor type 1 deficiency

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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