RGD:11592106 Rat Genome Database

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Variant: RGD:11592106 -  Homo sapiens

RGD ID: 11592106
RS ID: rs559797625
ClinVar ID: CV286192
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127276407  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 240,964,810
GRCh38 2 240,025,393
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
NC_000002.12:g.240025393G>A
NC_000002.11:g.240964810G>A
NG_031855.2:g.5010C>T
NR_136157.1:n.10C>T
More... 		06/14/2016 5 prime utr variant 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; NADH coenzyme Q reductase deficiency; Necrotizing encephalopathy infantile subacute of Leigh; Subacute necrotizing encephalopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000335419 CLINVAR
  RCV000392831 CLINVAR
dbSNP (RS) rs559797625 CLINVAR
MedGen C0023264 CLINVAR
  C1838979 CLINVAR
NCBI Gene NDUFA10 CLINVAR
OMIM 256000 CLINVAR
  603835 CLINVAR
SNOMED CT 29570005 CLINVAR