rs777908405

This variant is located in the NPHP3 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Nephronophthisis 3; Renal-hepatic-pancreatic dysplasia 1; NPHP3-related Meckel-like syndrome; Nephronophthisis

About NPHP3

This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]

View all NPHP3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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