RGD:127300220 Rat Genome Database

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Variant: RGD:127300220 -  Homo sapiens

RGD ID: 127300220
RS ID: rs1175400236
ClinVar ID: CV1133553
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HADHA  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 26,455,155
GRCh38 2 26,232,287
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_747t1:c.454-8G>T
NM_000182.5:c.454-8G>T
LRG_747:g.17335G>T
NG_007121.2:g.17335G>T
More... 		03/01/2019 intron variant likely benign 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:HADHA
Accession:NM_000182
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001498545 CLINVAR
dbSNP (RS) rs1175400236 CLINVAR
MedGen C1969443 CLINVAR
NCBI Gene HADHA CLINVAR
OMIM 600890 CLINVAR
  609016 CLINVAR
SNOMED CT 237999008 CLINVAR