rs2141543849 Rat Genome Database

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Variant: rs2141543849 -  Homo sapiens

RGD ID: 151807993
RS ID: rs2141543849
ClinVar ID: CV1462818
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETFA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 76,588,039
GRCh38 15 76,295,698
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001127716.2:c.40-2998G>A
NM_000126.4:c.79G>A
NG_007077.2:g.20772G>A
NC_000015.10:g.76295698C>T
More... 		08/31/2021 intron variant uncertain significance 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)
CV1462818Humanmultiple acyl-CoA dehydrogenase deficiency  IAGP 8554872ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiencyClinVarPMID:28492532
Gene Symbol:ETFA
Accession:NM_000126
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFRAAAPGQLRRAASLLRFQSTLVIAKHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQ
HDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCD
EKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQ
LHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLF
KVVPEMTEILKKK*

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

Gene Symbol:ETFA
Accession:NM_001127716
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV001991552 CLINVAR
dbSNP (RS) rs2141543849 CLINVAR
MedGen C0268596 CLINVAR
NCBI Gene ETFA CLINVAR
OMIM 231680 CLINVAR
  608053 CLINVAR
SNOMED CT 22886006 CLINVAR