rs146054765

This variant is located in the NPHP3 gene.

▶

ClinVar annotation

Conflicting Classifications

6 submitters2 publications

Nephronophthisis; Renal-hepatic-pancreatic dysplasia 1; NPHP3-related Meckel-like syndrome; not provided; Nephronophthisis 3; Inborn genetic diseases; NPHP3-related Meckel-like syndrome;Nephronophthisis 3;Renal-hepatic-pancreatic dysplasia 1

View on ClinVar →

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…