rs780359925

This variant is located in the POU1F1 gene.

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ClinVar annotation

Pathogenic★★★☆

2 submitters4 publications

not provided; Combined pituitary hormone deficiencies, genetic form

About POU1F1

This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all POU1F1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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