HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10) - Rat Genome Database

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Gene: HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10) Homo sapiens
Analyze
Symbol: HSD17B10
Name: hydroxysteroid 17-beta dehydrogenase 10
RGD ID: 732223
HGNC Page HGNC
Description: Exhibits oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and tRNA binding activity. Involved in several processes, including carboxylic acid metabolic process; cellular hormone metabolic process; and mitochondrial tRNA processing. Localizes to mitochondrial nucleoid and mitochondrial ribonuclease P complex. Implicated in chromosome Xp11.22 duplication syndrome; pheochromocytoma; and syndromic X-linked intellectual disability type 10. Biomarker of Alzheimer's disease and osteosarcoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 17b-HSD10; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase; 3-hydroxyacyl-CoA dehydrogenase type-2; AB-binding alcohol dehydrogenase; ABAD; amyloid-beta peptide binding alcohol dehydrogenase; CAMR; DUPXp11.22; endoplasmic reticulum-associated amyloid beta-peptide-binding protein; ERAB; HADH2; HCD2; HSD10MD; hydroxysteroid (17-beta) dehydrogenase 10; hydroxysteroid dehydrogenase 10; mental retardation, X-linked 17; mental retardation, X-linked 31; mental retardation, X-linked, syndromic 10; MHBD; mitochondrial ribonuclease P protein 2; mitochondrial RNase P subunit 2; MRPP2; MRX17; MRX31; MRXS10; SCHAD; SDR5C1; short chain dehydrogenase/reductase family 5C member 1; short chain dehydrogenase/reductase family 5C, member 1; short chain L-3-hydroxyacyl-CoA dehydrogenase type 2; short chain type dehydrogenase/reductase XH98G2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX53,431,258 - 53,434,370 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX53,431,258 - 53,434,373 (-)EnsemblGRCh38hg38GRCh38
GRCh38X53,431,258 - 53,434,376 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X53,458,206 - 53,461,323 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X53,474,931 - 53,478,048 (-)NCBINCBI36hg18NCBI36
Build 34X53,341,230 - 53,344,341NCBI
CeleraX57,289,763 - 57,292,880 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,515,835 - 50,518,952 (-)NCBIHuRef
CHM1_1X53,448,673 - 53,451,790 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(5alpha)-cholestan-3beta-ol  (EXP)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
20-hydroxycholesterol  (EXP)
3-chloropropane-1,2-diol  (ISO)
3alpha-hydroxy-5beta-pregnan-20-one  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-tert-Octylphenol  (ISO)
7alpha-hydroxycholesterol  (EXP)
acetamide  (ISO)
all-trans-retinoic acid  (EXP)
aminoglutethimide  (EXP)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
androstane-3,17-diol  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
Butylparaben  (ISO)
cadmium dichloride  (ISO)
captan  (ISO)
carbon nanotube  (ISO)
chromium(6+)  (ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diuron  (ISO)
doxorubicin  (ISO)
enzacamene  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fumonisin B1  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
hydrogen sulfide  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lithium atom  (ISO)
lithium hydride  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
NAD zwitterion  (EXP)
NAD(+)  (EXP)
oxybenzone  (ISO)
p-tert-Amylphenol  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
PhIP  (ISO)
phlorizin  (ISO)
pirinixic acid  (ISO)
prochloraz  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
quercetin  (ISO)
rac-lactic acid  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
tanespimycin  (EXP)
tert-butyl hydroperoxide  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal concentration of acylcarnitine in the urine  (IAGP)
Abnormal enzyme/coenzyme activity  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal mitochondrial morphology  (IAGP)
Abnormality of mitochondrial metabolism  (IAGP)
Abnormality of movement  (IAGP)
Abnormality of the basal ganglia  (IAGP)
Abnormality of the coagulation cascade  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the lower urinary tract  (IAGP)
Absent speech  (IAGP)
Aggressive behavior  (IAGP)
Agitation  (IAGP)
Behavioral abnormality  (IAGP)
Blindness  (IAGP)
Cardiomegaly  (IAGP)
Cerebral cortical atrophy  (IAGP)
Choreoathetosis  (IAGP)
Cyanosis  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Elevated brain lactate level by MRS  (IAGP)
Frontotemporal cerebral atrophy  (IAGP)
Gastrointestinal dysmotility  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hyperammonemia  (IAGP)
Hyperkinetic movements  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoglycemia  (IAGP)
Hypotonia  (IAGP)
Increased CSF lactate  (IAGP)
Increased serum lactate  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Lactic acidosis  (IAGP)
Loss of ability to walk  (IAGP)
Metabolic acidosis  (IAGP)
Microcephaly  (IAGP)
Moderate global developmental delay  (IAGP)
Neurodegeneration  (IAGP)
Nonprogressive encephalopathy  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Paroxysmal bursts of laughter  (IAGP)
Poor coordination  (IAGP)
Poor head control  (IAGP)
Progressive neurologic deterioration  (IAGP)
Psychomotor retardation  (IAGP)
Restlessness  (IAGP)
Retinal degeneration  (IAGP)
Rod-cone dystrophy  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Spastic diplegia  (IAGP)
Spastic tetraparesis  (IAGP)
Spastic tetraplegia  (IAGP)
Spoken Word Recognition Deficit  (IAGP)
Visual loss  (IAGP)
X-linked dominant inheritance  (IAGP)
References

Additional References at PubMed
PMID:MRX17   PMID:8687463   PMID:MRX31   PMID:9553139   PMID:9671743   PMID:9712734   PMID:9890977   PMID:10329704   PMID:10371197   PMID:10600649   PMID:11403151   PMID:11430884  
PMID:11559359   PMID:12477932   PMID:12696021   PMID:12917011   PMID:14672739   PMID:15087549   PMID:15342248   PMID:15489334   PMID:15665036   PMID:15804423   PMID:16021519   PMID:16148061  
PMID:16176262   PMID:16344560   PMID:16899120   PMID:17236142   PMID:17266347   PMID:17500595   PMID:17618155   PMID:17707551   PMID:17917077   PMID:18252223   PMID:18765932   PMID:18984158  
PMID:18996107   PMID:19027726   PMID:19343046   PMID:19422801   PMID:19601895   PMID:19706438   PMID:19738201   PMID:19756307   PMID:20000738   PMID:20077426   PMID:20186120   PMID:20638476  
PMID:20664630   PMID:21081666   PMID:21145461   PMID:21382475   PMID:21900206   PMID:21907836   PMID:22127393   PMID:22174920   PMID:22271489   PMID:22496890   PMID:22623428   PMID:22681889  
PMID:22863883   PMID:22939629   PMID:23042678   PMID:23166591   PMID:23266819   PMID:23473034   PMID:23667531   PMID:23755257   PMID:23834306   PMID:23874603   PMID:24244276   PMID:24337577  
PMID:24549042   PMID:24550385   PMID:24703694   PMID:24711643   PMID:24797263   PMID:25007702   PMID:25147182   PMID:25375021   PMID:25575635   PMID:25591737   PMID:25798074   PMID:25921289  
PMID:25925575   PMID:25963833   PMID:26186194   PMID:26338420   PMID:26344197   PMID:26496610   PMID:26871637   PMID:26884257   PMID:26972000   PMID:27025967   PMID:27291402   PMID:27342126  
PMID:27432908   PMID:27684187   PMID:28188816   PMID:28302793   PMID:28514442   PMID:28515276   PMID:28581483   PMID:28888424   PMID:29040705   PMID:29053956   PMID:29128334   PMID:29229926  
PMID:29331416   PMID:29395067   PMID:29480196   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29845934   PMID:29880640   PMID:29991678   PMID:30196744   PMID:30209976   PMID:30463901  
PMID:30575818   PMID:30619736   PMID:30833792   PMID:30945288   PMID:30948266   PMID:31046837   PMID:31048545   PMID:31056398   PMID:31091453   PMID:31108370   PMID:31300519   PMID:31478661  
PMID:31527615   PMID:31536960   PMID:31586073   PMID:31654490   PMID:31685992   PMID:31980649   PMID:31995728   PMID:32129710   PMID:32176628   PMID:32203420   PMID:32694731   PMID:32703935  
PMID:32814053   PMID:32825572   PMID:32877691  


Genomics

Comparative Map Data
HSD17B10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX53,431,258 - 53,434,370 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX53,431,258 - 53,434,373 (-)EnsemblGRCh38hg38GRCh38
GRCh38X53,431,258 - 53,434,376 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X53,458,206 - 53,461,323 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X53,474,931 - 53,478,048 (-)NCBINCBI36hg18NCBI36
Build 34X53,341,230 - 53,344,341NCBI
CeleraX57,289,763 - 57,292,880 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,515,835 - 50,518,952 (-)NCBIHuRef
CHM1_1X53,448,673 - 53,451,790 (-)NCBICHM1_1
Hsd17b10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X150,784,892 - 150,787,438 (+)NCBIGRCm39mm39
GRCm39 EnsemblX150,784,841 - 150,787,438 (+)Ensembl
GRCm38X152,001,896 - 152,004,442 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX152,001,845 - 152,004,442 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X148,436,439 - 148,438,985 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X147,342,612 - 147,345,158 (+)NCBImm8
MGSCv36X129,009,142 - 129,011,881 (+)NCBImm8
CeleraX132,428,129 - 132,428,679 (-)NCBICelera
Cytogenetic MapXF3NCBI
Hsd17b10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X21,089,152 - 21,091,597 (+)NCBI
Rnor_6.0 EnsemblX21,696,772 - 21,699,241 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X21,696,796 - 21,699,241 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X21,747,939 - 21,750,384 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X41,489,343 - 41,491,788 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X41,542,811 - 41,545,257 (+)NCBI
CeleraX21,364,462 - 21,366,907 (+)NCBICelera
Cytogenetic MapXq13NCBI
Hsd17b10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955475478,690 - 481,029 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955475478,690 - 481,029 (-)NCBIChiLan1.0ChiLan1.0
HSD17B10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X53,754,164 - 53,757,643 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX53,754,164 - 53,757,643 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X45,645,849 - 45,649,039 (-)NCBIMhudiblu_PPA_v0panPan3
HSD17B10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X45,165,272 - 45,167,683 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX45,165,272 - 45,167,574 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX36,699,189 - 36,701,599 (-)NCBI
ROS_Cfam_1.0X45,490,114 - 45,492,524 (-)NCBI
UMICH_Zoey_3.1X44,985,267 - 44,987,677 (-)NCBI
UNSW_CanFamBas_1.0X45,434,940 - 45,437,350 (-)NCBI
UU_Cfam_GSD_1.0X45,502,509 - 45,504,919 (-)NCBI
Hsd17b10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X38,060,016 - 38,062,537 (-)NCBI
SpeTri2.0NW_004936751399,743 - 402,200 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HSD17B10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX46,218,545 - 46,220,944 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X46,218,540 - 46,220,942 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X51,717,057 - 51,719,459 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HSD17B10
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X49,568,206 - 49,571,356 (-)NCBI
ChlSab1.1 EnsemblX49,567,267 - 49,571,292 (-)Ensembl
Hsd17b10
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624909681,731 - 684,130 (-)NCBI

Position Markers
RH1705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,458,288 - 53,458,519UniSTSGRCh37
Build 36X53,475,013 - 53,475,244RGDNCBI36
CeleraX57,289,845 - 57,290,076RGD
Cytogenetic MapXp11.22UniSTS
Cytogenetic MapXp11.2UniSTS
HuRefX50,515,917 - 50,516,148UniSTS
GeneMap99-GB4 RH MapX165.37UniSTS
NCBI RH MapX290.3UniSTS
SHGC-31766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,458,241 - 53,458,367UniSTSGRCh37
Build 36X53,474,966 - 53,475,092RGDNCBI36
CeleraX57,289,798 - 57,289,924RGD
Cytogenetic MapXp11.22UniSTS
Cytogenetic MapXp11.2UniSTS
HuRefX50,515,870 - 50,515,996UniSTS
Stanford-G3 RH MapX2353.0UniSTS
GeneMap99-GB4 RH MapX163.3UniSTS
Whitehead-RH MapX95.4UniSTS
NCBI RH MapX290.3UniSTS
GeneMap99-G3 RH MapX1584.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1373
Count of miRNA genes:652
Interacting mature miRNAs:740
Transcripts:ENST00000168216, ENST00000375298, ENST00000375304, ENST00000477706, ENST00000495986
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 13
Medium 2432 2924 1723 622 1922 464 4355 2158 3697 418 1435 1608 171 1204 2788 4
Low 3 66 2 2 29 1 1 38 26 1 9 4 2 2 2
Below cutoff 1 1 1 1 11 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001037811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC233728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF037438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF069134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU132847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY092415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ347835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U73514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U96132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000168216   ⟹   ENSP00000168216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,431,261 - 53,434,370 (-)Ensembl
RefSeq Acc Id: ENST00000375298   ⟹   ENSP00000364447
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,431,263 - 53,434,350 (-)Ensembl
RefSeq Acc Id: ENST00000375304   ⟹   ENSP00000364453
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,431,258 - 53,434,356 (-)Ensembl
RefSeq Acc Id: ENST00000477706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,431,258 - 53,432,322 (-)Ensembl
RefSeq Acc Id: ENST00000495986
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,431,859 - 53,434,336 (-)Ensembl
RefSeq Acc Id: NM_001037811   ⟹   NP_001032900
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,431,258 - 53,434,376 (-)NCBI
GRCh37X53,458,206 - 53,461,323 (-)ENTREZGENE
Build 36X53,474,931 - 53,478,048 (-)NCBI Archive
HuRefX50,515,835 - 50,518,952 (-)ENTREZGENE
CHM1_1X53,448,673 - 53,451,790 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004493   ⟹   NP_004484
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,431,261 - 53,434,370 (-)NCBI
GRCh37X53,458,206 - 53,461,323 (-)ENTREZGENE
Build 36X53,474,931 - 53,478,048 (-)NCBI Archive
HuRefX50,515,835 - 50,518,952 (-)ENTREZGENE
CHM1_1X53,448,673 - 53,451,790 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001032900   ⟸   NM_001037811
- Peptide Label: isoform 2
- UniProtKB: Q99714 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004484   ⟸   NM_004493
- Peptide Label: isoform 1
- UniProtKB: Q99714 (UniProtKB/Swiss-Prot),   A0A0S2Z410 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000364447   ⟸   ENST00000375298
RefSeq Acc Id: ENSP00000364453   ⟸   ENST00000375304
RefSeq Acc Id: ENSP00000168216   ⟸   ENST00000168216

Promoters
RGD ID:13605378
Promoter ID:EPDNEW_H28873
Type:initiation region
Name:HSD17B10_1
Description:hydroxysteroid 17-beta dehydrogenase 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,434,370 - 53,434,430EPDNEW
RGD ID:6808921
Promoter ID:HG_KWN:66924
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000056754
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,475,696 - 53,476,196 (-)MPROMDB
RGD ID:6808923
Promoter ID:HG_KWN:66926
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000375298,   NM_001037811,   NM_004493,   OTTHUMT00000056752
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,477,846 - 53,478,667 (-)MPROMDB
RGD ID:6852448
Promoter ID:EP74033
Type:multiple initiation site
Name:HS_HADH2
Description:Hydroxyacyl-Coenzyme A dehydrogenase, type II.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,478,028 - 53,478,088EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001037811.2(HSD17B10):c.388C>T (p.Arg130Cys) single nucleotide variant HSD10 disease [RCV000012195]|not provided [RCV001224055] ChrX:53432086 [GRCh38]
ChrX:53459034 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001037811.2(HSD17B10):c.364C>G (p.Leu122Val) single nucleotide variant HSD10 disease [RCV000012196] ChrX:53432110 [GRCh38]
ChrX:53459058 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001037811.2(HSD17B10):c.713A>G (p.Asn238Ser) single nucleotide variant HSD10 disease [RCV000012197] ChrX:53431450 [GRCh38]
ChrX:53458398 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001037811.2(HSD17B10):c.568+6C>A single nucleotide variant HSD10 disease [RCV000012198] ChrX:53431819 [GRCh38]
ChrX:53458767 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001037811.2(HSD17B10):c.718G>C (p.Glu240Gln) single nucleotide variant HSD10 disease [RCV000012199] ChrX:53431445 [GRCh38]
ChrX:53458393 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.23-11.22(chrX:50086006-54030240)x1 copy number loss See cases [RCV000051663] ChrX:50086006..54030240 [GRCh38]
ChrX:49850663..53957191 [GRCh37]
ChrX:49737403..54073398 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22(chrX:53403791-54030240)x2 copy number gain See cases [RCV000052413] ChrX:53403791..54030240 [GRCh38]
ChrX:53430723..53957191 [GRCh37]
ChrX:53447448..54073398 [NCBI36]
ChrX:Xp11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22(chrX:50916108-53902080)x2 copy number gain See cases [RCV000052391] ChrX:50916108..53902080 [GRCh38]
ChrX:50659108..53928500 [GRCh37]
ChrX:50675848..53945225 [NCBI36]
ChrX:Xp11.22
pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.22(chrX:53374742-53543761)x3 copy number gain See cases [RCV000054186] ChrX:53374742..53543761 [GRCh38]
ChrX:53401663..53570722 [GRCh37]
ChrX:53418388..53587447 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001037811.2(HSD17B10):c.194T>C (p.Val65Ala) single nucleotide variant HSD10 disease [RCV000488826]|not provided [RCV000081106] ChrX:53432410 [GRCh38]
ChrX:53459358 [GRCh37]
ChrX:Xp11.22
pathogenic|uncertain significance
NM_001031745.4(RIBC1):c.86G>A (p.Arg29Gln) single nucleotide variant Malignant melanoma [RCV000073221] ChrX:53426362 [GRCh38]
ChrX:53453310 [GRCh37]
ChrX:53470035 [NCBI36]
ChrX:Xp11.22
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001037811.2(HSD17B10):c.257A>G (p.Asp86Gly) single nucleotide variant HSD10 disease [RCV000133540] ChrX:53432347 [GRCh38]
ChrX:53459295 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp11.22(chrX:53403791-53795603)x2 copy number gain See cases [RCV000136996] ChrX:53403791..53795603 [GRCh38]
ChrX:53430723..53822101 [GRCh37]
ChrX:53447448..53838826 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp11.22(chrX:52975325-53610511)x3 copy number gain See cases [RCV000138363] ChrX:52975325..53610511 [GRCh38]
ChrX:53004505..53637472 [GRCh37]
ChrX:53021230..53654197 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22(chrX:53339720-53764162)x1 copy number loss See cases [RCV000141717] ChrX:53339720..53764162 [GRCh38]
ChrX:53368926..53790660 [GRCh37]
ChrX:53385651..53807385 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp11.22(chrX:53374635-53878183)x3 copy number gain See cases [RCV000142505] ChrX:53374635..53878183 [GRCh38]
ChrX:53401556..53904610 [GRCh37]
ChrX:53418281..53921335 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001037811.2(HSD17B10):c.147C>G (p.Ala49=) single nucleotide variant not provided [RCV000175785] ChrX:53433767 [GRCh38]
ChrX:53460714 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001037811.2(HSD17B10):c.218C>G (p.Thr73Arg) single nucleotide variant HSD10 disease [RCV000185552] ChrX:53432386 [GRCh38]
ChrX:53459334 [GRCh37]
ChrX:Xp11.22
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001037811.2(HSD17B10):c.366C>T (p.Leu122=) single nucleotide variant not specified [RCV000193527] ChrX:53432108 [GRCh38]
ChrX:53459056 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3 copy number gain See cases [RCV000240407] ChrX:53220822..58066465 [GRCh37]
ChrX:Xp11.22-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004493.3(HSD17B10):c.592C>A (p.Pro198Thr) single nucleotide variant HSD10 disease [RCV000240845] ChrX:53431801 [GRCh38]
ChrX:53458749 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001037811.2(HSD17B10):c.607A>G (p.Lys203Glu) single nucleotide variant HSD10 disease [RCV000488602]|not provided [RCV000365072] ChrX:53431556 [GRCh38]
ChrX:53458504 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001037811.2(HSD17B10):c.650G>A (p.Arg217Gln) single nucleotide variant not provided [RCV000591328] ChrX:53431513 [GRCh38]
ChrX:53458461 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22(chrX:53453213-53461226)x2 copy number gain See cases [RCV000448144] ChrX:53453213..53461226 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001037811.2(HSD17B10):c.439C>T (p.Arg147Cys) single nucleotide variant Inborn genetic diseases [RCV000623879]|not provided [RCV000484484] ChrX:53432035 [GRCh38]
ChrX:53458983 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004493.3(HSD17B10):c.595+17_595+20del microsatellite not specified [RCV000486529] ChrX:53431778..53431781 [GRCh38]
ChrX:53458726..53458729 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001037811.2(HSD17B10):c.223C>G (p.Leu75Val) single nucleotide variant not specified [RCV000500969] ChrX:53432381 [GRCh38]
ChrX:53459329 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001037811.2(HSD17B10):c.573G>C (p.Leu191=) single nucleotide variant not specified [RCV000501073] ChrX:53431590 [GRCh38]
ChrX:53458538 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001037811.2(HSD17B10):c.259G>A (p.Val87Ile) single nucleotide variant HSD10 disease [RCV000766098]|not specified [RCV000504036] ChrX:53432345 [GRCh38]
ChrX:53459293 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001037811.2(HSD17B10):c.144G>A (p.Glu48=) single nucleotide variant not specified [RCV000502515] ChrX:53433770 [GRCh38]
ChrX:53460717 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_001037811.2(HSD17B10):c.286G>A (p.Val96Met) single nucleotide variant HSD17B10-Related Disorder [RCV000509416]|not specified [RCV000498369] ChrX:53432318 [GRCh38]
ChrX:53459266 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance|not provided
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001037811.2(HSD17B10):c.192+19C>T single nucleotide variant not specified [RCV000604945] ChrX:53433703 [GRCh38]
ChrX:53460650 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.22(chrX:53372728-54106257)x2 copy number gain not provided [RCV000684334] ChrX:53372728..54106257 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001037811.2(HSD17B10):c.253G>A (p.Val85Met) single nucleotide variant HSD10 disease [RCV000714830] ChrX:53432351 [GRCh38]
ChrX:53459299 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_004493.3(HSD17B10):c.201T>C (p.Ser67=) single nucleotide variant not provided [RCV000891793] ChrX:53432403 [GRCh38]
ChrX:53459351 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004493.3(HSD17B10):c.517G>C (p.Gly173Arg) single nucleotide variant HSD10 disease [RCV001004085] ChrX:53431876 [GRCh38]
ChrX:53458824 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NC_000023.10:g.(?_53460649)_(53461312_?)dup duplication not provided [RCV001033084] ChrX:53460649..53461312 [GRCh37]
ChrX:Xp11.22
uncertain significance
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001037811.2(HSD17B10):c.486+3G>A single nucleotide variant not provided [RCV000801040] ChrX:53431985 [GRCh38]
ChrX:53458933 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22(chrX:53384424-54103704)x2 copy number gain not provided [RCV000846635] ChrX:53384424..54103704 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004493.3(HSD17B10):c.239G>C (p.Gly80Ala) single nucleotide variant not provided [RCV000871706] ChrX:53432365 [GRCh38]
ChrX:53459313 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_004493.3(HSD17B10):c.488T>C (p.Val163Ala) single nucleotide variant not provided [RCV001227274] ChrX:53431905 [GRCh38]
ChrX:53458853 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004493.3(HSD17B10):c.293G>T (p.Ser98Ile) single nucleotide variant not provided [RCV001220877] ChrX:53432311 [GRCh38]
ChrX:53459259 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004493.3(HSD17B10):c.487-6C>T single nucleotide variant not provided [RCV000934897] ChrX:53431912 [GRCh38]
ChrX:53458860 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004493.3(HSD17B10):c.753C>G (p.Ile251Met) single nucleotide variant HSD10 disease [RCV001250067] ChrX:53431437 [GRCh38]
ChrX:53458385 [GRCh37]
ChrX:Xp11.22
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_004493.3(HSD17B10):c.13T>C (p.Cys5Arg) single nucleotide variant not provided [RCV001245871] ChrX:53434333 [GRCh38]
ChrX:53461280 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004493.3(HSD17B10):c.56C>G (p.Ala19Gly) single nucleotide variant HSD10 disease [RCV001253059] ChrX:53433858 [GRCh38]
ChrX:53460805 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp11.22(chrX:53188785-54049698)x3 copy number gain not provided [RCV001258795] ChrX:53188785..54049698 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_004493.3(HSD17B10):c.164G>A (p.Gly55Glu) single nucleotide variant HSD10 disease [RCV001291736] ChrX:53433750 [GRCh38]
ChrX:53460697 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004493.3(HSD17B10):c.416A>G (p.Asn139Ser) single nucleotide variant Inborn genetic diseases [RCV001266176] ChrX:53432058 [GRCh38]
ChrX:53459006 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp11.22(chrX:53188785-53934760)x2 copy number gain not provided [RCV001258794] ChrX:53188785..53934760 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.22(chrX:52923471-53765589)x2 copy number gain Intellectual disability [RCV001270430] ChrX:52923471..53765589 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004493.3(HSD17B10):c.284C>T (p.Ala95Val) single nucleotide variant not provided [RCV001321597] ChrX:53432320 [GRCh38]
ChrX:53459268 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004493.3(HSD17B10):c.14G>A (p.Cys5Tyr) single nucleotide variant HSD10 disease [RCV001329905] ChrX:53434332 [GRCh38]
ChrX:53461279 [GRCh37]
ChrX:Xp11.22
uncertain significance
NC_000023.10:g.(?_53421698)_(53459359_?)dup duplication not provided [RCV001295820] ChrX:53421698..53459359 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004493.3(HSD17B10):c.85C>G (p.Arg29Gly) single nucleotide variant HSD10 disease [RCV001329906] ChrX:53433829 [GRCh38]
ChrX:53460776 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004493.3(HSD17B10):c.314A>C (p.Lys105Thr) single nucleotide variant not provided [RCV001311391] ChrX:53432290 [GRCh38]
ChrX:53459238 [GRCh37]
ChrX:Xp11.22
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4800 AgrOrtholog
COSMIC HSD17B10 COSMIC
Ensembl Genes ENSG00000072506 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000168216 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364447 UniProtKB/TrEMBL
  ENSP00000364453 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000168216 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000375298 UniProtKB/TrEMBL
  ENST00000375304 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000072506 GTEx
HGNC ID HGNC:4800 ENTREZGENE
Human Proteome Map HSD17B10 Human Proteome Map
InterPro NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sc_DH/Rdtase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDR_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3028 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3028 ENTREZGENE
OMIM 300256 OMIM
  300438 OMIM
  300705 OMIM
Pfam adh_short UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162391638 PharmGKB
PRINTS GDHRDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDRFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ADH_SHORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z410 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z434_HUMAN UniProtKB/TrEMBL
  HCD2_HUMAN UniProtKB/Swiss-Prot
  Q5H928_HUMAN UniProtKB/TrEMBL
  Q99714 ENTREZGENE
UniProt Secondary F6Y9T1 UniProtKB/TrEMBL
  Q5H927 UniProtKB/Swiss-Prot
  Q6IBS9 UniProtKB/Swiss-Prot
  Q8TCV9 UniProtKB/Swiss-Prot
  Q96HD5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-23 HSD17B10  hydroxysteroid 17-beta dehydrogenase 10  MRX31  mental retardation, X-linked 31  Data Merged 737654 PROVISIONAL
2017-08-22 HSD17B10  hydroxysteroid 17-beta dehydrogenase 10  MRX17  mental retardation, X-linked 17  Data Merged 737654 PROVISIONAL
2016-06-07 HSD17B10  hydroxysteroid 17-beta dehydrogenase 10    hydroxysteroid (17-beta) dehydrogenase 10  Symbol and/or name change 5135510 APPROVED
2016-04-05 HSD17B10  hydroxysteroid (17-beta) dehydrogenase 10  MRXS10  mental retardation, X-linked, syndromic 10  Data Merged 737654 PROVISIONAL
2011-08-16 HSD17B10  hydroxysteroid (17-beta) dehydrogenase 10  HSD17B10  hydroxysteroid (17-beta) dehydrogenase 10  Symbol and/or name change 5135510 APPROVED