View gene HSD17B10

General information
Gene symbol HSD17B10
Gene name hydroxysteroid (17-beta) dehydrogenase 10
Chromosome X
Chromosomal band p11.2
Imprinted Unknown
Genomic reference NG_008153.1
Transcript reference NM_004493.2
Exon/intron information NM_004493.2
Associated with diseases ID, MRX-17, MRXS-10, 17-beta-hydroxysteroid dehydrogenase X deficiency
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Stefanie Wieser and Division of Human Genetics, Innsbruck
Total number of public variants reported 24
Unique public DNA variants reported 11
Individuals with public variants 232
Hidden variants 1
Date created July 20, 2012
Date last updated January 17, 2015
Version HSD17B10:150117

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
External URL Infromed Constent before genetic testing
HGNC 4800
Entrez Gene 3028
PubMed articles HSD17B10
OMIM - Gene 300256
OMIM - Diseases MRX-17 (MRX-31)
MRXS-10 (mental retardation, X-linked syndromic, type 10 (MRXS-10))
17-beta-hydroxysteroid dehydrogenase X deficiency
HGMD HSD17B10
GeneTests HSD17B10


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000262 X transcript variant 1 NM_004493.2 NP_004484.1 25


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