RGD:10411333 Rat Genome Database

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Variant: RGD:10411333 -  Homo sapiens

RGD ID: 10411333
RS ID: rs374970309
ClinVar ID: CV210807
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127276407  NDUFA10  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 240,964,756
GRCh38 2 240,025,339
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.240025339A>C
NC_000002.11:g.240964756A>C
NG_031855.2:g.5064T>G
NM_001322020.2:c.-38T>G
More...
01/13/2018 5 prime utr variant benign|likely benign|uncertain significance AllHighlyPenetrant; 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; Subacute necrotizing encephalopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NDUFA10
Accession:NM_004544
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:NDUFA10
Accession:NM_001322020
Location:5UTRS;EXON

Gene Symbol:NDUFA10
Accession:NM_001322019
Location:5UTRS;EXON

Gene Symbol:NDUFA10
Accession:XM_047444487
Location:5UTRS;EXON

Gene Symbol:NDUFA10
Accession:NM_001410987
Location:5UTRS;EXON

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000200045 CLINVAR
  RCV001141188 CLINVAR
  RCV001141189 CLINVAR
dbSNP (RS) rs374970309 CLINVAR
MedGen C0023264 CLINVAR
  CN169374 CLINVAR
  CN257533 CLINVAR
NCBI Gene NDUFA10 CLINVAR
OMIM 252010 CLINVAR
  256000 CLINVAR
  603835 CLINVAR
SNOMED CT 29570005 CLINVAR