RGD:11592168 Rat Genome Database

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Variant: RGD:11592168 -  Homo sapiens

RGD ID: 11592168
RS ID: rs3813623
ClinVar ID: CV277920
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFS2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 161,169,165
GRCh38 1 161,199,375
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.5061G>T
NC_000001.11:g.161199375G>T
NC_000001.10:g.161169165G>T
NM_004550.4:c.-388G>T
More... 		06/23/2018 5 prime utr variant benign|likely benign all ages MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6; MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF; NADH-COENZYME Q REDUCTASE DEFICIENCY; none provided

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:NDUFS2
Accession:NM_001377299
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:NDUFS2
Accession:NM_001377302
Location:INTRON

Gene Symbol:NDUFS2
Accession:XM_005245209
Location:INTRON

Gene Symbol:NDUFS2
Accession:NM_001410889
Location:INTRON

Gene Symbol:NDUFS2
Accession:NM_001166159
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000336009 CLINVAR
  RCV001610796 CLINVAR
  RCV003343753 CLINVAR
dbSNP (RS) rs3813623 CLINVAR
MedGen C3661900 CLINVAR
  C4748759 CLINVAR
  CN257533 CLINVAR
NCBI Gene NDUFS2 CLINVAR
OMIM 252010 CLINVAR
  602985 CLINVAR
  618228 CLINVAR