RGD:28888466 Rat Genome Database

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Variant: RGD:28888466 -  Homo sapiens

RGD ID: 28888466
RS ID: rs143693330
ClinVar ID: CV884330
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFA10  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 240,900,163
GRCh38 2 239,960,746
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001322020.2:c.*377C>T
NG_031855.2:g.69657C>T
NC_000002.12:g.239960746G>A
NC_000002.11:g.240900163G>A
More... 		01/13/2018 3 prime utr variant uncertain significance 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_001322020
Location:3UTRS;EXON

Gene Symbol:NDUFA10
Accession:NM_004544
Location:3UTRS;EXON

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

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

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

Gene Symbol:NDUFA10
Accession:NM_001410987
Location:INTRON

Gene Symbol:NDUFA10
Accession:XM_047444487
Location:INTRON

Gene Symbol:NDUFA10
Accession:NM_001322019
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001138393 CLINVAR
  RCV001138394 CLINVAR
dbSNP (RS) rs143693330 CLINVAR
MedGen C0023264 CLINVAR
  CN257533 CLINVAR
NCBI Gene NDUFA10 CLINVAR
OMIM 252010 CLINVAR
  256000 CLINVAR
  603835 CLINVAR
SNOMED CT 29570005 CLINVAR