rs213032
This is a intron variant variant in the ECE1 gene.
About ECE1
The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009]
View all ECE1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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