rs776082182

This variant is located in the PAX8 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters

Hypothyroidism, congenital, nongoitrous, 2; Inborn genetic diseases

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About PAX8

This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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