rs121909173

This is a variant in the HESX1 gene that changes a glutamine to an histidine.

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ClinVar annotation

Pathogenic★★★☆
5 submitters7 publications

GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES; PITUITARY HORMONE DEFICIENCY, COMBINED, 5 (CPHD5); Septo-optic dysplasia sequence (SOD); not specified

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About HESX1

This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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