{{Rsnum
|rsid=104894070
|Chromosome=8
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=CYP11B1
|position=142879146
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CYP11B1
}}{{omim
|id=610613
|rsnum=104894070
|variant=0016
}}{{ClinVar
|rsid=104894070
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=143960562
|CHROM=8
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000000002110100
|GENEINFO=CYP11B1:1584
|GENE_NAME=CYP11B1
|GENE_ID=1584
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.143960562G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=610613.0016
|CLNSIG=5
|CLNCUI=C0268292
|CLNDBN=Deficiency of steroid 11-beta-monooxygenase; Congenital adrenal hyperplasia
|Disease=Deficiency of steroid 11-beta-monooxygenase; Congenital adrenal hyperplasia
|CLNACC=RCV000001245.1; RCV000029646.1
|Tags=RV;PM;PMC;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:SNOMED_CT; MedGen:SNOMED_CT
|CLNDSDBID=C0268292:202010:124214007; C0001627:237751000
}}{{PMID Auto
|PMID=16046588
|Title=21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
}}

{{PMID Auto
|PMID=16670167
|Title=Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency.
}}

{{PMID Auto
|PMID=17172090
|Title=Donor splice mutation in the 11beta-hydroxylase (CypllB1) gene resulting in sex reversal: a case report and review of the literature.
}}

{{PMID Auto
|PMID=19204079
|Title=A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide polymorphisms in human cytochromes P450.
}}

{{PMID Auto
|PMID=20089618
|Title=Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
|OA=1
}}