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rs104886492

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886492(C;C)
Make rs104886492(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53432410
GeneHSD17B10
is asnp
is mentioned by
dbSNPrs104886492
dbSNP (classic)rs104886492
ClinGenrs104886492
ebirs104886492
HLIrs104886492
Exacrs104886492
Gnomadrs104886492
Varsomers104886492
LitVarrs104886492
Maprs104886492
PheGenIrs104886492
Biobankrs104886492
1000 genomesrs104886492
hgdprs104886492
ensemblrs104886492
geneviewrs104886492
scholarrs104886492
googlers104886492
pharmgkbrs104886492
gwascentralrs104886492
openSNPrs104886492
23andMers104886492
SNPshotrs104886492
SNPdbers104886492
MSV3drs104886492
GWAS Ctlgrs104886492
Max Magnitude0

[PMID 22132097OA-icon.png] A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability

ClinVar
Risk rs104886492(C;C)
Alt rs104886492(C;C)
Reference Rs104886492(T;T)
Significance Pathogenic
Disease not specified 2-methyl-3-hydroxybutyric aciduria
Variation info
Gene HSD17B10
CLNDBN not specified 2-methyl-3-hydroxybutyric aciduria
Reversed 1
HGVS NC_000023.10:g.53459358A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000081106.4, RCV000488826.1,