The CYP17A1 gene homepage

General information
Gene symbol CYP17A1
Gene name cytochrome P450, family 17, subfamily A, polypeptide 1
Chromosome 10
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_007955.1
Transcript reference NM_000102.3
Exon/intron information NM_000102.3 exon/intron table
Associated with diseases adrenal hyperplasia
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 38
Unique public DNA variants reported 33
Individuals with public variants 8
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated February 26, 2024
Version CYP17A1:240226

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_000102.3.
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/CYP17A1
HGNC 2593
Entrez Gene 1586
PubMed articles CYP17A1
OMIM - Gene 609300
OMIM - Diseases adrenal hyperplasia (adrenal hyperplasia, 17-alpha-hydroxylase deficiency)
HGMD CYP17A1
GeneCards CYP17A1
GeneTests CYP17A1
Orphanet CYP17A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006040 10 cytochrome P450, family 17, subfamily A, polypeptide 1 NM_000102.3 NP_000093.1 38


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