RGD:402472458 Rat Genome Database

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Variant: RGD:402472458 -  Homo sapiens

RGD ID: 402472458
ClinVar ID: CV2946430
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETFDH  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 159,620,120
GRCh38 4 158,698,968
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001281738.1:c.790-19A>G
NM_001281737.2:c.832-19A>G
NM_004453.4:c.973-19A>G
NG_007078.2:g.31627A>G
More... 		02/08/2023 intron variant likely benign Ethylmalonic-adipicaciduria; GA 2; GA II; Glutaric acidemia type 2; Glutaric acidemia type II; Glutaric aciduria, type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ETFDH
Accession:NM_001281738
Location:INTRON

Gene Symbol:ETFDH
Accession:NM_004453
Location:INTRON

Gene Symbol:ETFDH
Accession:NM_001281737
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003624539 CLINVAR
MedGen C0268596 CLINVAR
NCBI Gene ETFDH CLINVAR
OMIM 231675 CLINVAR
  231680 CLINVAR
SNOMED CT 22886006 CLINVAR