rs2537205726

This variant is located in the EYA1 gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆

1 submitter1 publication

Otofaciocervical syndrome 1

About EYA1

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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