RGD:11600486 Rat Genome Database

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Variant: RGD:11600486 -  Homo sapiens

RGD ID: 11600486
RS ID: rs760423996
ClinVar ID: CV320526
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADSB  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 124,810,705
GRCh38 10 123,051,189
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_451t1:c.1128+3A>G
LRG_451:g.47277A>G
NG_008003.1:g.47277A>G
NC_000010.11:g.123051189A>G
More... 		04/01/2020 intron variant uncertain significance infancy <1 / 1 000 000 2-methylbutyric aciduria; 2-methylbutyryl-CoA dehydrogenase deficiency; 2-methylbutyrylglycinuria; SBCAD deficiency; Short branched-chain acyl-CoA dehydrogenase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACADSB
Accession:NM_001609
Location:INTRON

Gene Symbol:ACADSB
Accession:NM_001330174
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000274382 CLINVAR
dbSNP (RS) rs760423996 CLINVAR
MedGen C1864912 CLINVAR
NCBI Gene ACADSB CLINVAR
OMIM 600301 CLINVAR
  610006 CLINVAR
SNOMED CT 444838008 CLINVAR