RGD:11588779 Rat Genome Database

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Variant: RGD:11588779 -  Homo sapiens

RGD ID: 11588779
RS ID: rs41270845
ClinVar ID: CV277930
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFS2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 161,169,255
GRCh38 1 161,199,465
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_013352.1:g.5151C>G
NC_000001.11:g.161199465C>G
NC_000001.10:g.161169255C>G
NM_001377301.1:c.-298C>G
More... 		01/12/2018 5 prime utr variant uncertain significance all ages MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF; NADH-COENZYME Q REDUCTASE DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NDUFS2
Accession:NM_001377301
Location:5UTRS;EXON

Gene Symbol:NDUFS2
Accession:NM_004550
Location:5UTRS;EXON

Gene Symbol:NDUFS2
Accession:NM_001377300
Location:5UTRS;INTRON

Gene Symbol:NDUFS2
Accession:NM_001377298
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:NDUFS2
Accession:NM_001377299
Location:INTRON

Gene Symbol:NDUFS2
Accession:NM_001166159
Location:INTRON

Gene Symbol:NDUFS2
Accession:NM_001410889
Location:INTRON

Gene Symbol:NDUFS2
Accession:NM_001377302
Location:INTRON

Gene Symbol:NDUFS2
Accession:XM_005245209
Location:INTRON

Gene Symbol:NDUFS2
Accession:NR_165188
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000305513 CLINVAR
dbSNP (RS) rs41270845 CLINVAR
MedGen CN257533 CLINVAR
NCBI Gene NDUFS2 CLINVAR
OMIM 252010 CLINVAR
  602985 CLINVAR