2q13-NPHP1 Copy Number Variation
Description
Genomic location GRCh37/hg19
Disorder Information from Orphanet
This CNV is not yet linked to an OrphaCode.
Interactive Pathway Viewer
Gene Information
| HGNC | Gene Name | NCBI | Ensembl | UniProt |
|---|---|---|---|---|
| NPHP1 | nephrocystin 1 | 4867 | ENSG00000144061 | O15259 |