RGD:12739837 Rat Genome Database

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Variant: RGD:12739837 -  Homo sapiens

RGD ID: 12739837
RS ID: rs1057516417
ClinVar ID: CV357262
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HADHA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 26,457,084
GRCh38 2 26,234,216
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000002.12:g.26234216C>T
NC_000002.11:g.26457084C>T
NM_000182.5:c.453+1G>A
NM_000182.4:c.453+1G>A
More...
12/18/2018 splice donor variant likely pathogenic infancy 1-9 / 100 000 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:21103935   PMID:21549624   PMID:22459206   PMID:28492532   PMID:30682426   PMID:35281663  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000410550 CLINVAR
  RCV000824013 CLINVAR
dbSNP (RS) rs1057516417 CLINVAR
MedGen C1969443 CLINVAR
  C3711645 CLINVAR
NCBI Gene HADHA CLINVAR
OMIM 600890 CLINVAR
  609015 CLINVAR
  609016 CLINVAR
SNOMED CT 237999008 CLINVAR