rs1596224387 Rat Genome Database

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Variant: rs1596224387 -  Homo sapiens

RGD ID: 14744557
RS ID: rs1596224387
ClinVar ID: CV643552
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETFA  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 76,588,055
GRCh38 15 76,295,714
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_000126.4:c.63T>G
NG_007077.2:g.20756T>G
NC_000015.10:g.76295714A>C
NC_000015.9:g.76588055A>C
More... 		07/19/2018 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)
CV643552Humanmultiple acyl-CoA dehydrogenase deficiency  IAGP 8554872ClinVar Annotator: match by term: Glutaric aciduria, type 2ClinVarPMID:28492532
Gene Symbol:ETFA
Accession:NM_000126
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFRAAAPGQLRRAASLLRFQRTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQ
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 RCV000824188 CLINVAR
dbSNP (RS) rs1596224387 CLINVAR
MedGen C0268596 CLINVAR
NCBI Gene ETFA CLINVAR
OMIM 231680 CLINVAR
  608053 CLINVAR
SNOMED CT 22886006 CLINVAR