NPHP4 nephrocystin 4

Gene info


SLSN4, KIAA0673, POC10

Previous symbol


External ID

HGNC: 19104
Entrez Gene: 261734
Ensembl: ENSG00000131697
UCSC: uc001alq.3
OMIM: 607215
UniProtKB: O75161

Disease info



CHD Phenotype

  • Atrioventricular septal defect
  • Transposition of the great arteries
  • Double outlet right ventricle
  • Dextrocardia

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: No CHD in knockout mice


Variant info


Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for NPHP4: BED file

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Selected References

  1. French, V. M., van de Laar, I. M. B. H., Wessels, M. W., Rohe, C., Roos-Hesselink, J. W., Wang, G., Frohn-Mulder, I. M. E., Severijnen, L.-A., de Graaf, B. M., Schot, R., Breedveld, G., Mientjes, E., van Tienhoven, M., Jadot, E., Jiang, Z., Verkerk, A., Swagemakers, S., Venselaar, H., Rahimi, Z., … Bertoli-Avella, A. M. (2012). NPHP4 Variants Are Associated With Pleiotropic Heart Malformations. Circulation Research, 110(12), 1564–1574. DOI:10.1161/CIRCRESAHA.112.269795 PMID:22550138