RGD:156434015 Rat Genome Database

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Variant: RGD:156434015 -  Homo sapiens

RGD ID: 156434015
ClinVar ID: CV1946736
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETFA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 76,584,959
GRCh38 15 76,292,618
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001127716.2:c.121+1G>A
NM_000126.4:c.268+1G>A
NG_007077.2:g.23852G>A
NC_000015.10:g.76292618C>T
More... 		01/24/2023 splice donor variant likely pathogenic Ethylmalonic-adipicaciduria; GA 2; GA II; Glutaric acidemia type 2; Glutaric acidemia type II; Glutaric aciduria, type 2
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1946736Humanmultiple acyl-CoA dehydrogenase deficiency  IAGP 8554872ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiencyClinVarPMID:16199547|PMID:16510302|PMID:23785301|PMID:28492532
Gene Symbol:ETFA
Accession:NM_001127716
Location:INTRON

Gene Symbol:ETFA
Accession:NM_000126
Location:INTRON

Gene Symbol:ETFA
Accession:XR_007064434
Location:INTRON;NON-CODING

.
PMID:16199547   PMID:16510302   PMID:23785301   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003104196 CLINVAR
MedGen C0268596 CLINVAR
NCBI Gene ETFA CLINVAR
OMIM 231680 CLINVAR
  608053 CLINVAR
SNOMED CT 22886006 CLINVAR