rs1481107650

This variant is located in the EPS8L2 gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters1 publication

Hearing loss, autosomal recessive 106; EPS8L2-related disorder; not specified

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About EPS8L2

This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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