{{Rsnum
|rsid=11557488
|Gene=PRKCSH
|Chromosome=19
|position=11447460
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.1253
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PRKCSH
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 0.0
| HCB | 0.0 | 2.5 | 97.5
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 1.6 | 98.4
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 2.5 | 97.5
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=11557488
|allele=A
|frequency=
|uid=1103691091129
|type=heterozygous_SNP
|hugo=PRKCSH
|ensembl gene=ENSG00000130175
|ensembl transcript=ENST00000252455
|sift=TOLERATED
|disease=Defects in PRKCSH are a cause of polycystic liver disease (PCLD) (MIM:174050). PCLD is an autosomal dominant disorder and is characterized by the presence of multiple liver cysts of biliary epithelial origin. PCLD is a distinct clinical and genetic entity that can occur independently from autosomal dominant polycystic kidney disease (ADPKD) (MIM:173900), which in a considerable but uncertain proportion of cases is associated with hepatic cysts.
}}

{{GET Evidence
|gene=PRKCSH
|aa_change=Ala291Thr
|aa_change_short=A291T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs11557488
|overall_frequency_n=1709
|overall_frequency_d=10756
|overall_frequency=0.158888
|n_genomes=9
|n_genomes_annotated=0
|n_haplomes=10
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.001
|genetests_testable=Y
|nblosum100=1
|autoscore=2
|n_web_uneval=2
}}

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