rs121909110

This is a variant in the ESRRB gene that changes a alanine to an valine.

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ClinVar annotation

Pathogenic

1 submitter1 publication

Autosomal recessive nonsyndromic hearing loss 35

About ESRRB

This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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