RGD:13783439 Rat Genome Database

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Variant: RGD:13783439 -  Homo sapiens

RGD ID: 13783439
RS ID: rs1458898996
ClinVar ID: CV541979
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HADHA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 26,457,224
GRCh38 2 26,234,356
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000182.5:c.315-1G>A
NM_000182.4:c.315-1G>A
NC_000002.12:g.26234356C>T
NC_000002.11:g.26457224C>T
More... 		07/22/2023 splice acceptor variant pathogenic|likely pathogenic 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:7738175   PMID:16199547   PMID:19852779   PMID:21103935   PMID:21549624   PMID:22459206   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000670063 CLINVAR
  RCV001382534 CLINVAR
dbSNP (RS) rs1458898996 CLINVAR
MedGen C1969443 CLINVAR
  C3711645 CLINVAR
NCBI Gene HADHA CLINVAR
OMIM 600890 CLINVAR
  609016 CLINVAR
SNOMED CT 237999008 CLINVAR