RGD:8562475 Rat Genome Database

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Variant: RGD:8562475 -  Homo sapiens

RGD ID: 8562475
RS ID: rs122461163
ClinVar ID: CV26483
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSD17B10  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 53,458,398
GRCh38 X 53,431,450
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_450t2:c.713A>G
NM_001037811.2:c.713A>G
LRG_450:g.7926A>G
NG_008153.1:g.7926A>G
More...
11/26/2013 500b downstream variant|missense variant|neargene-3 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HSD17B10
Accession:NM_001037811
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAACRSVKGLVAVITGGASGLGLATAERLVGQGASAVLLDLPNSGGEAQAKKLGNNCVFAPADVTSEKDVQTALALAKG
KFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQRVLDVNLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASVAAFE
GQVGQAAYSASKGGIVGMTLPIARDLAPIGLFGTPLLTSLPEKVCNFLASQVPFPSRLGDPAEYAHLVQAIIENPFLSGE
VIRLDGAIRMQP*

Gene Symbol:HSD17B10
Accession:NM_004493
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 247
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAACRSVKGLVAVITGGASGLGLATAERLVGQGASAVLLDLPNSGGEAQAKKLGNNCVFAPADVTSEKDVQTALALAKG
KFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQRVLDVNLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASVAAFE
GQVGQAAYSASKGGIVGMTLPIARDLAPIGIRVMTIAPGLFGTPLLTSLPEKVCNFLASQVPFPSRLGDPAEYAHLVQAI
IENPFLSGEVIRLDGAIRMQP*

Variant Samples
Additional References at PubMed
PMID:16148061  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012197 CLINVAR
dbSNP (RS) rs122461163 CLINVAR
MedGen C3266731 CLINVAR
NCBI Gene HSD17B10 CLINVAR
OMIM 300220 CLINVAR
  300256 CLINVAR
  300438 CLINVAR
OMIM Allele 300256.0003 CLINVAR