The CYP11B1 gene homepage

General information
Gene symbol CYP11B1
Gene name cytochrome P450, family 11, subfamily B, polypeptide 1
Chromosome 8
Chromosomal band q21-q22
Imprinted Unknown
Genomic reference NG_007954.1
Transcript reference NM_000497.3
Exon/intron information NM_000497.3 exon/intron table
Associated with diseases HALD-1, steroid 11-beta-monooxygenase deficiency
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 42
Unique public DNA variants reported 37
Individuals with public variants 5
Hidden variants 4
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated September 17, 2021
Version CYP11B1:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000497.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/CYP11B1
HGNC 2591
Entrez Gene 1584
PubMed articles CYP11B1
OMIM - Gene 610613
OMIM - Diseases HALD-1 (GRA)
steroid 11-beta-monooxygenase deficiency
HGMD CYP11B1
GeneCards CYP11B1
GeneTests CYP11B1
Orphanet CYP11B1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006038 8 transcript variant 1 NM_000497.3 NP_000488.3 42


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