{{Rsnum
|rsid=33958626
|Gene=NPHP1
|Chromosome=2
|position=110201449
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=A
|GMAF=0.0202
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=NPHP1
}}{{Venter SNP
|rsid=33958626
|allele=T
|frequency=
|uid=1103658182907
|type=heterozygous_SNP
|hugo=NPHP1
|ensembl gene=ENSG00000144061
|ensembl transcript=ENST00000316534
|sift=
|disease=Defects in NPHP1 are the cause of Joubert syndrome 4 (JBTS4) (MIM:609583). Joubert syndrome is an autosomal recessive multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (the ""molar tooth sign"" on axial magnetic resonance imaging), mental retardation, hypotonia, irregular breathing pattern, and eye-movement abnormalities. Some individuals have retinal dystrophy and/or progressive renal failure characterized by nephronophthisis.
}}

{{GET Evidence
|gene=NPHP1
|aa_change=Pro39Thr
|aa_change_short=P39T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs33958626
|overall_frequency_n=293
|overall_frequency_d=10758
|overall_frequency=0.0272355
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.052
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=4
|autoscore=2
|webscore=N
}}

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