RGD:12894880 Rat Genome Database

Variant: RGD:12894880 - Homo sapiens

RGD ID:

12894880

RS ID:

rs1064794694

ClinVar ID:

CV411425

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

HSD17B10

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	53,458,983
GRCh38	X	53,432,035

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_033076.2:g.14181G>A NM_004493.2:c.439C>T NG_008153.1:g.7341C>T LRG_450t2:c.439C>T More...	10/18/2021	missense variant	pathogenic\|likely pathogenic	17 beta-hydroxysteroid dehydrogenase type 10 deficiency; 17-beta-hydroxysteroid dehydrogenase X deficiency; 2-methyl-3-hydroxybutyric aciduria; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency; 2M3HBA; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency; 3H2MBD deficiency; CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR; HSD10 deficiency; HSD10 disease; HSD17B10 DEFICIENCY; Hydroxyacyl-CoA dehydrogenase II deficiency; none provided

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

syndromic X-linked intellectual disability type 10 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Neurodevelopmental delay (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	HSD17B10
Accession:	NM_004493
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	147

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAACRSVKGLVAVITGGASGLGLATAERLVGQGASAVLLDLPNSGGEAQAKKLGNNCVFAPADVTSEKDVQTALALAKG KFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQRVLDVNLMGTFNVIRLVAGEMGQNEPDQGGQCGVIINTASVAAFE GQVGQAAYSASKGGIVGMTLPIARDLAPIGIRVMTIAPGLFGTPLLTSLPEKVCNFLASQVPFPSRLGDPAEYAHLVQAI IENPFLNGEVIRLDGAIRMQP*

Gene Symbol:	HSD17B10
Accession:	NM_001037811
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	147

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAACRSVKGLVAVITGGASGLGLATAERLVGQGASAVLLDLPNSGGEAQAKKLGNNCVFAPADVTSEKDVQTALALAKG KFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQRVLDVNLMGTFNVIRLVAGEMGQNEPDQGGQCGVIINTASVAAFE GQVGQAAYSASKGGIVGMTLPIARDLAPIGLFGTPLLTSLPEKVCNFLASQVPFPSRLGDPAEYAHLVQAIIENPFLNGE VIRLDGAIRMQP*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:15342248	PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000484484	CLINVAR
	RCV000623879	CLINVAR
	RCV001755724	CLINVAR
	RCV002274038	CLINVAR
dbSNP (RS)	rs1064794694	CLINVAR
MedGen	C0950123	CLINVAR
	C3266731	CLINVAR
	C3661900	CLINVAR
	C4022738	CLINVAR
NCBI Gene	HSD17B10	CLINVAR
OMIM	300220	CLINVAR
	300256	CLINVAR
	300438	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:12894880 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:12894880 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar