rs761485089 Rat Genome Database

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Variant: rs761485089 -  Homo sapiens

RGD ID: 151882493
RS ID: rs761485089
ClinVar ID: CV1398960
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: MTO1  
Reference Nucleotide: TTC
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 6 74,176,271 - 74,176,274
GRCh38 6 73,466,548 - 73,466,551
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001123226.2:c.478_480del
NM_012123.4:c.478_480del
NM_133645.3:c.478_480del
NG_032856.2:g.9819_9821del
More... 		05/19/2022 inframe_deletion 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)
CV1398960Humancombined oxidative phosphorylation deficiency 10  IAGP 8554872ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 10ClinVarPMID:28492532


.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV001961932 CLINVAR
dbSNP (RS) rs761485089 CLINVAR
MedGen C4749921 CLINVAR
NCBI Gene MTO1 CLINVAR
OMIM 614667 CLINVAR
  614702 CLINVAR