rs3739470

This variant is located in the LHX3 gene.

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

Non-acquired combined pituitary hormone deficiency with spine abnormalities; not provided

About LHX3

This gene encodes a member of a large family of proteins which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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