rs369822439

This variant is located in the CELF2 gene.

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ClinVar annotation

Likely Benign

1 submitter

CELF2-related disorder

About CELF2

Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

View all CELF2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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