The HSD17B10 gene homepage

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 exon/intron table
Associated with diseases HSD10MD, ID, MRXS10
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Stefanie Wieser and Martina Witsch-Baumgartner
Total number of public variants reported 43
Unique public DNA variants reported 23
Individuals with public variants 239
Hidden variants 6
Date created July 20, 2012
Date last updated May 09, 2022
Version HSD17B10:220509

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_004493.2.
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 HSD10MD (HSD10 Mi disease)
MRXS10 (mental retardation, X-linked syndromic, type 10 (MRXS-10))
GeneTests HSD17B10
Orphanet HSD17B10

Active transcripts




NCBI ID     

NCBI Protein ID     

00000262 X transcript variant 1 NM_004493.2 NP_004484.1 43

Copyright & disclaimer
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