rs104893742

This is a variant in the HESX1 gene that changes a glutamate to an lysine.

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ClinVar annotation

Pathogenic
2 submitters3 publications

GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES

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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]

View all HESX1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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