RGD:11586398 Rat Genome Database

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Variant: RGD:11586398 -  Homo sapiens

RGD ID: 11586398
RS ID: rs144414842
ClinVar ID: CV286381
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HADHA  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 26,462,021
GRCh38 2 26,239,153
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.10469T>G
NC_000002.12:g.26239153A>C
NC_000002.11:g.26462021A>C
NM_000182.5:c.68-10T>G
More... 		03/04/2019 intron variant benign|likely benign|uncertain significance infancy Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase; LCHAD Deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HADHA
Accession:NM_000182
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000287761 CLINVAR
  RCV000382309 CLINVAR
  RCV000556545 CLINVAR
  RCV001712063 CLINVAR
dbSNP (RS) rs144414842 CLINVAR
MedGen C1969443 CLINVAR
  C3661900 CLINVAR
  C3711645 CLINVAR
NCBI Gene HADHA CLINVAR
OMIM 600890 CLINVAR
  609016 CLINVAR
SNOMED CT 237999008 CLINVAR