2q13-NPHP1 Copy Number Variation - CNVPathwayAtlas

2q13-NPHP1 Copy Number Variation

Description

Mutations or loss of NPHP1 cause nephronophthisis (NPHP), a rare genetic disorder. Due to the involvement of NPHP1 in ciliary function and cellular orientation in kidney, the main symptoms of the disorder are found in kidney development and function. However, as in many ciliopathies, neuronal functions are also affected, causing psychiatric disorders.

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

This CNV is not yet linked to an OrphaCode.

Molecular pathway

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Gene Information

HGNC Gene Name NCBI Ensembl UniProt
NPHP1 nephrocystin 1 4867 ENSG00000144061 O15259

Evidence