NSDHL gene homepage

General information
Gene symbol NSDHL
Gene name NAD(P) dependent steroid dehydrogenase-like
Chromosome X
Chromosomal band q28
Imprinted Unknown
Genomic reference NG_009163.1
Transcript reference NM_015922.2
Associated with diseases CHILD, CKS, ID
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 35
Unique public DNA variants reported 24
Individuals with public variants 55
Hidden variants 0
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated July 12, 2019
Version NSDHL:190712

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 13398
Entrez Gene 50814
PubMed articles NSDHL
OMIM - Gene 300275
OMIM - Diseases CHILD (CHILD syndrome)
CKS (syndrome, CK (CKS))
HGMD NSDHL
GeneCards NSDHL
GeneTests NSDHL


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000860 X transcript variant 1 NM_015922.2 NP_057006.1 35


Copyright & disclaimer
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