RGD:11581442 Rat Genome Database

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Variant: RGD:11581442 -  Homo sapiens

RGD ID: 11581442
RS ID: rs188523700
ClinVar ID: CV276932
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMGCS2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 120,300,075
GRCh38 1 119,757,452
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_447t2:c.725-14G>A
LRG_447t1:c.851-14G>A
NM_001166107.1:c.725-14G>A
LRG_447:g.16481G>A
More... 		12/02/2021 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance childhood <1 / 1 000 000 AllHighlyPenetrant; 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_001166107
Location:INTRON

Gene Symbol:HMGCS2
Accession:NM_005518
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000369940 CLINVAR
  RCV000442121 CLINVAR
  RCV003949966 CLINVAR
dbSNP (RS) rs188523700 CLINVAR
MedGen C2751532 CLINVAR
  CN169374 CLINVAR
NCBI Gene HMGCS2 CLINVAR
OMIM 600234 CLINVAR
  605911 CLINVAR