{{Rsnum
|rsid=34248917
|Gene=NPHP4
|Chromosome=1
|position=5890953
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.006428
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=NPHP4
}}{{Venter SNP
|rsid=34248917
|allele=T
|frequency=
|uid=1103675011669
|type=heterozygous_SNP
|hugo=NPHP4
|ensembl gene=ENSG00000131697
|ensembl transcript=ENST00000378162
|sift=TOLERATED
|disease=Defects in NPHP4 are the cause of Senior-Loken syndrome 4 (SLSN4) (MIM:606996). Senior-Loken syndrome (SLSN) (MIM:266900) is also known as juvenile nephronophthisis with Leber amaurosis. It is an autosomal recessive renal-retinal disorder, characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.
}}

{{GET Evidence
|gene=NPHP4
|aa_change=Arg740His
|aa_change_short=R740H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs34248917
|overall_frequency_n=243
|overall_frequency_d=9982
|overall_frequency=0.0243438
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.003
|genetests_testable=Y
|nblosum100=1
|autoscore=2
|n_web_uneval=2
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}