RGD:11666985 Rat Genome Database

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Variant: RGD:11666985 -  Homo sapiens

RGD ID: 11666985
RS ID: rs188188846
ClinVar ID: CV353100
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 24,151,964
GRCh38 1 23,825,474
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_013061.1:g.4986A>C
NC_000001.11:g.23825474T>G
NC_000001.10:g.24151964T>G
NM_000191.2:c.-59A>C
More...
04/11/2023 2kb upstream variant likely benign infancy 3-hydroxy-3-methylglutaric aciduria; Defect in leucine metabolism; HMG CoA lyase deficiency; HMGCL DEFICIENCY; Hydroxymethylglutaric aciduria; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000403712 CLINVAR
  RCV000835422 CLINVAR
dbSNP (RS) rs188188846 CLINVAR
MedGen C0268601 CLINVAR
  C3661900 CLINVAR
NCBI Gene HMGCL CLINVAR
OMIM 246450 CLINVAR
  613898 CLINVAR
SNOMED CT 124611007 CLINVAR