RGD:127293974 Rat Genome Database

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Variant: RGD:127293974 -  Homo sapiens

RGD ID: 127293974
RS ID: rs12987980
ClinVar ID: CV1162158
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HADHA  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 26,462,093
GRCh38 2 26,239,225
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.26239225A>T
NC_000002.11:g.26462093A>T
LRG_747t1:c.68-82T>A
NM_000182.5:c.68-82T>A
More... 		06/10/2021 intron variant benign Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase; LCHAD 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:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001527296 CLINVAR
  RCV001539470 CLINVAR
dbSNP (RS) rs12987980 CLINVAR
MedGen C3661900 CLINVAR
  C3711645 CLINVAR
NCBI Gene HADHA CLINVAR
OMIM 600890 CLINVAR
  609016 CLINVAR