RGD:12845664 Rat Genome Database

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Variant: RGD:12845664 -  Homo sapiens

RGD ID: 12845664
RS ID: rs762224192
ClinVar ID: CV365139
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMGCL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 24,144,086
GRCh38 1 23,817,596
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013061.1:g.12864C>T
NC_000001.11:g.23817596G>A
NC_000001.10:g.24144086G>A
NM_000191.3:c.145-13C>T
More... 		04/11/2023 intron variant 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_000191
Location:INTRON

Gene Symbol:HMGCL
Accession:NM_001166059
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000440233 CLINVAR
  RCV002059622 CLINVAR
dbSNP (RS) rs762224192 CLINVAR
MedGen C0268601 CLINVAR
  CN169374 CLINVAR
NCBI Gene HMGCL CLINVAR
OMIM 246450 CLINVAR
  613898 CLINVAR
SNOMED CT 124611007 CLINVAR