RGD:12837233 Rat Genome Database

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Variant: RGD:12837233 -  Homo sapiens

RGD ID: 12837233
RS ID: rs557684539
ClinVar ID: CV374337
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETFA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 76,580,173
GRCh38 15 76,287,832
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000126.3:c.451+14G>A
NG_007077.2:g.28638G>A
NC_000015.10:g.76287832C>T
NC_000015.9:g.76580173C>T
More... 		11/05/2021 intron variant benign|likely benign AllHighlyPenetrant; 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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000424816 CLINVAR
  RCV002062404 CLINVAR
dbSNP (RS) rs557684539 CLINVAR
MedGen C0268596 CLINVAR
  CN169374 CLINVAR
NCBI Gene ETFA CLINVAR
OMIM 231680 CLINVAR
  608053 CLINVAR
SNOMED CT 22886006 CLINVAR