RGD:151865930 Rat Genome Database

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Variant: RGD:151865930 -  Homo sapiens

RGD ID: 151865930
RS ID: rs1035647830
ClinVar ID: CV1495225
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMGCS2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 120,307,252
GRCh38 1 119,764,629
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_447t2:c.105-3C>T
NM_001166107.1:c.105-3C>T
NM_005518.4:c.105-3C>T
LRG_447:g.9304C>T
More... 		11/14/2020 intron variant uncertain significance HMG-CoA synthase-2 deficiency; HMGCS2 DEFICIENCY; mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency; MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HMGCS2
Accession:NM_005518
Location:INTRON

Gene Symbol:HMGCS2
Accession:NM_001166107
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001980715 CLINVAR
dbSNP (RS) rs1035647830 CLINVAR
MedGen C2751532 CLINVAR
NCBI Gene HMGCS2 CLINVAR
OMIM 600234 CLINVAR
  605911 CLINVAR