RGD:28905976 Rat Genome Database

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Variant: RGD:28905976 -  Homo sapiens

RGD ID: 28905976
RS ID: rs977177603
ClinVar ID: CV879743
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFV2  NDUFV2-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 9,134,334
GRCh38 18 9,134,336
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021074.5:c.*57C>T
NG_047134.1:g.2584C>T
NG_013355.1:g.36707C>T
NC_000018.10:g.9134336C>T
More... 		01/13/2018 3 prime utr variant uncertain significance 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:NDUFV2
Accession:NM_021074
Location:3UTRS;EXON

Gene Symbol:NDUFV2
Accession:XM_017025782
Location:3UTRS;EXON

Gene Symbol:NDUFV2
Accession:XR_243808
Location:EXON;NON-CODING

Gene Symbol:NDUFV2-AS1
Accession:NR_110772
Location:INTRON;NON-CODING

Gene Symbol:NDUFV2-AS1
Accession:NR_110771
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001126800 CLINVAR
dbSNP (RS) rs977177603 CLINVAR
MedGen CN257533 CLINVAR
NCBI Gene NDUFV2 CLINVAR
  NDUFV2-AS1 CLINVAR
OMIM 252010 CLINVAR
  600532 CLINVAR