RGD:155955254 Rat Genome Database

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Variant: RGD:155955254 -  Homo sapiens

RGD ID: 155955254
ClinVar ID: CV2120352
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: LOC130065433  NDUFAF5  
Reference Nucleotide: G
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 20 13,765,759
GRCh38 20 13,785,113
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001352407.2:c.-650del
NM_001039375.3:c.46del
NM_001352406.2:c.-536del
NM_001352408.2:c.46del
More... 		03/25/2024 5 prime utr variant pathogenic|likely pathogenic Mitochondrial complex I deficiency, nuclear type 16; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2120352Humannuclear type mitochondrial complex I deficiency 16  IAGP 8554872ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 16ClinVarPMID:25741868|PMID:26275793|PMID:28492532|PMID:30473481|PMID:32918965


.
PMID:25741868   PMID:26275793   PMID:28492532   PMID:30473481   PMID:32918965  



Database
Acc Id
Source(s)
ClinVar RCV002972088 CLINVAR
  RCV004572488 CLINVAR
MedGen C3661900 CLINVAR
  C4748785 CLINVAR
NCBI Gene LOC130065433 CLINVAR
  NDUFAF5 CLINVAR
OMIM 612360 CLINVAR
  618238 CLINVAR