rs142371860

This is a stop gained variant in the DRC1 gene.

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ClinVar annotation

Pathogenic★★★☆
10 submitters6 publications

DRC1-related disorder; Primary ciliary dyskinesia; Primary ciliary dyskinesia 21; Spermatogenic failure 80 (SPGF80); not specified

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About DRC1

This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015]

View all DRC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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