The 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_009163.2
Transcript reference NM_001129765.2, NM_015922.3
Associated with diseases CHILD
Citation reference(s) -
Curators (1) MyHVP
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 1
Hidden variants -
Date created July 08, 2021
Date last updated September 12, 2021
Version NSDHL:210912

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 (Congenital Hemidysplasia with Ichthyosiform Nevus and Limb Defects Syndrome)
HGMD NSDHL
GeneCards NSDHL
GeneTests NSDHL
Orphanet NSDHL


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000765 X transcript variant 2 NM_001129765.2 NP_001123237.1 1
00000764 X transcript variant 1 NM_015922.3 NP_057006.1 -


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