RGD:155948016 Rat Genome Database

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Variant: RGD:155948016 -  Homo sapiens

RGD ID: 155948016
ClinVar ID: CV2136614
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETHE1  LOC127891657  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 44,030,827
GRCh38 19 43,526,675
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001320868.2:c.-139-16G>C
NM_001320869.2:c.81+422G>C
NM_001320867.2:c.82-16G>C
NM_014297.5:c.82-16G>C
More... 		01/31/2024 intron variant likely benign Encephalopathy, petechiae, and ethylmalonic aciduria; EPEMA syndrome; Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2136614Humanethylmalonic encephalopathy  IAGP 8554872ClinVar Annotator: match by term: Ethylmalonic encephalopathyClinVarPMID:28492532
Gene Symbol:ETHE1
Accession:NM_001320868
Location:5UTRS;INTRON

Gene Symbol:ETHE1
Accession:XM_005258687
Location:5UTRS;INTRON

Gene Symbol:ETHE1
Accession:NM_001320867
Location:INTRON

Gene Symbol:ETHE1
Accession:NM_014297
Location:INTRON

Gene Symbol:ETHE1
Accession:NM_001320869
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002994459 CLINVAR
MedGen C1865349 CLINVAR
NCBI Gene ETHE1 CLINVAR
OMIM 602473 CLINVAR
  608451 CLINVAR