RGD:11666456 Rat Genome Database

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Variant: RGD:11666456 -  Homo sapiens

RGD ID: 11666456
RS ID: rs61329983
ClinVar ID: CV321729
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFS8  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 67,804,100
GRCh38 11 68,036,633
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_115:g.2618A>G
NG_017040.1:g.11017A>G
NG_007878.1:g.2618A>G
NC_000011.10:g.68036633A>G
More... 		07/09/2018 3 prime utr variant benign|likely benign|uncertain significance all ages 1-9 / 100 000 Complex 1 mitochondrial respiratory chain deficiency; Leigh Disease; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF; NADH coenzyme Q reductase deficiency; NADH-COENZYME Q REDUCTASE DEFICIENCY; Necrotizing encephalopathy infantile subacute of Leigh; none provided; Subacute necrotizing encephalopathy
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Osteopetrosis  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:NDUFS8
Accession:NM_002496
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000346629 CLINVAR
  RCV000370635 CLINVAR
  RCV000399461 CLINVAR
  RCV001109242 CLINVAR
  RCV001660604 CLINVAR
dbSNP (RS) rs61329983 CLINVAR
MedGen C0023264 CLINVAR
  C0029454 CLINVAR
  C1838979 CLINVAR
  C3661900 CLINVAR
  CN257533 CLINVAR
NCBI Gene NDUFS8 CLINVAR
  TCIRG1 CLINVAR
OMIM 252010 CLINVAR
  256000 CLINVAR
  602141 CLINVAR
  604592 CLINVAR
SNOMED CT 29570005 CLINVAR