RGD:11591174 Rat Genome Database

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Variant: RGD:11591174 -  Homo sapiens

RGD ID: 11591174
RS ID: rs368976628
ClinVar ID: CV289070
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAREM2  HADHA  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 26,414,272
GRCh38 2 26,191,403
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_007121.1:g.58218C>G
NC_000002.12:g.26191403G>C
NC_000002.11:g.26414272G>C
LRG_747t1:c.2147-8C>G
More... 		06/02/2020 intron variant likely benign|uncertain significance infancy Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase; LCHAD Deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GAREM2
Accession:XM_006711951
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_011532566
Location:INTRON

Gene Symbol:GAREM2
Accession:NM_001168241
Location:INTRON

Gene Symbol:GAREM2
Accession:NM_001191033
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_011532567
Location:INTRON

Gene Symbol:HADHA
Accession:NM_000182
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_011532565
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_011532564
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000326597 CLINVAR
  RCV000383464 CLINVAR
  RCV000935744 CLINVAR
dbSNP (RS) rs368976628 CLINVAR
MedGen C1969443 CLINVAR
  C3711645 CLINVAR
NCBI Gene GAREM2 CLINVAR
  HADHA CLINVAR
OMIM 600890 CLINVAR
  609016 CLINVAR
  617999 CLINVAR
SNOMED CT 237999008 CLINVAR