RGD:10411217 Rat Genome Database

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Variant: RGD:10411217 -  Homo sapiens

RGD ID: 10411217
RS ID: rs199648872
ClinVar ID: CV210796
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFA10  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 240,900,606
GRCh38 2 239,961,189
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.239961189G>C
NC_000002.11:g.240900606G>C
NG_031855.2:g.69214C>G
NM_004544.4:c.1000-3C>G
More... 		06/14/2016 intron variant likely pathogenic|uncertain significance all ages 1-9 / 100 000 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; Necrotizing encephalopathy infantile subacute of Leigh; none provided; Subacute necrotizing encephalopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NDUFA10
Accession:NM_001322019
Location:INTRON

Gene Symbol:NDUFA10
Accession:NM_004544
Location:INTRON

Gene Symbol:NDUFA10
Accession:XM_047444487
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:NDUFA10
Accession:NM_001322020
Location:INTRON

Gene Symbol:NDUFA10
Accession:NM_001410987
Location:INTRON

Gene Symbol:NDUFA10
Accession:NR_136157
Location:INTRON;NON-CODING

Gene Symbol:NDUFA10
Accession:NR_136155
Location:INTRON;NON-CODING

Gene Symbol:NDUFA10
Accession:NR_136156
Location:INTRON;NON-CODING

Gene Symbol:NDUFA10
Accession:NR_136158
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000199808 CLINVAR
  RCV000333603 CLINVAR
  RCV000388170 CLINVAR
dbSNP (RS) rs199648872 CLINVAR
MedGen C0023264 CLINVAR
  CN257533 CLINVAR
  CN517202 CLINVAR
NCBI Gene NDUFA10 CLINVAR
OMIM 252010 CLINVAR
  256000 CLINVAR
  603835 CLINVAR
SNOMED CT 29570005 CLINVAR