NPHP4 nephrocystin 4
Gene info
Synonyms
SLSN4, KIAA0673, POC10
Previous symbol
None
External ID
HGNC: 19104
Entrez Gene: 261734
Ensembl: ENSG00000131697
UCSC: uc001alq.3
OMIM:
607215
UniProtKB:
O75161
Disease info
Disease
None
CHD Phenotype
- Atrioventricular septal defect
- Transposition of the great arteries
- Double outlet right ventricle
- Dextrocardia
Extra Cardiac Phenotype
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
No CHD in null mice
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for NPHP4: BED file
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Selected References
- 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. https://doi.org/10.1161/circresaha.112.269795 DOI:10.1161/CIRCRESAHA.112.269795 PMID:22550138