RGD:156403559 Rat Genome Database

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Variant: RGD:156403559 -  Homo sapiens

RGD ID: 156403559
ClinVar ID: CV1871789
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTO1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 74,192,346
GRCh38 6 73,482,623
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_012123.4:c.1637+3A>G
NM_133645.3:c.1712+3A>G
NM_001123226.2:c.1757+3A>G
NG_032856.3:g.25888A>G
More... 		05/23/2023 intron variant uncertain significance CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS; Combined oxidative phosphorylation deficiency 10
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1871789Humancombined oxidative phosphorylation deficiency 10  IAGP 8554872ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiencyClinVarPMID:17576681|PMID:28492532|PMID:9536098
Gene Symbol:MTO1
Accession:NM_133645
Location:INTRON

Gene Symbol:MTO1
Accession:NM_001123226
Location:INTRON

Gene Symbol:MTO1
Accession:NM_012123
Location:INTRON

Gene Symbol:MTO1
Accession:XM_047418605
Location:INTRON

Gene Symbol:MTO1
Accession:XM_047418606
Location:INTRON

Gene Symbol:MTO1
Accession:XM_047418607
Location:INTRON

.
PMID:9536098   PMID:17576681   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003052627 CLINVAR
MedGen C4749921 CLINVAR
NCBI Gene MTO1 CLINVAR
OMIM 614667 CLINVAR
  614702 CLINVAR