rs1204240039

This variant is located in the ESRP1 gene.

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ClinVar annotation

Likely Benign

1 submitter

ESRP1-related disorder

ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]

Gene information from NCBI Gene. Variant classifications from ClinVar.

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