RGD:156344959 Rat Genome Database

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Variant: RGD:156344959 -  Homo sapiens

RGD ID: 156344959
ClinVar ID: CV1907758
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETFA  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 76,585,054
GRCh38 15 76,292,713
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007077.2:g.23757C>A
NC_000015.10:g.76292713G>T
NC_000015.9:g.76585054G>T
NM_000126.4:c.187-13C>A
More... 		06/02/2023 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:ETFA
Accession:NM_001127716
Location:INTRON

Gene Symbol:ETFA
Accession:NM_000126
Location:INTRON

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

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Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003090582 CLINVAR
MedGen C0268596 CLINVAR
NCBI Gene ETFA CLINVAR
OMIM 231680 CLINVAR
  608053 CLINVAR
SNOMED CT 22886006 CLINVAR