RGD:13526753 Rat Genome Database

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Variant: RGD:13526753 -  Homo sapiens

RGD ID: 13526753
RS ID: rs187735179
ClinVar ID: CV498350
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMGCL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 24,140,661
GRCh38 1 23,814,171
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000191.3:c.497+19G>A
NC_000001.11:g.23814171C>T
NM_001166059.2:c.348+2504G>A
NC_000001.10:g.24140661C>T
More... 		04/11/2023 intron variant benign|likely benign 3-hydroxy-3-methylglutaric aciduria; AllHighlyPenetrant; Defect in leucine metabolism; HMG CoA lyase deficiency; HMGCL DEFICIENCY; Hydroxymethylglutaric aciduria
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HMGCL
Accession:NM_001166059
Location:INTRON

Gene Symbol:HMGCL
Accession:NM_000191
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000604561 CLINVAR
  RCV002063202 CLINVAR
dbSNP (RS) rs187735179 CLINVAR
MedGen C0268601 CLINVAR
  CN169374 CLINVAR
NCBI Gene HMGCL CLINVAR
OMIM 246450 CLINVAR
  613898 CLINVAR
SNOMED CT 124611007 CLINVAR