RGD:11664586 Rat Genome Database

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Variant: RGD:11664586 -  Homo sapiens

RGD ID: 11664586
RS ID: rs886056323
ClinVar ID: CV290835
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DGUOK  DGUOK-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 74,185,983
GRCh38 2 73,958,856
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008044.1:g.37031G>A
NC_000002.12:g.73958856G>A
NC_000002.11:g.74185983G>A
NM_001318859.2:c.*120G>A
More... 		06/14/2016 3 prime utr variant uncertain significance Mitochondrial DNA depletion syndrome 3; Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency; Mitochondrial DNA-depletion syndrome 3, hepatocerebral
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DGUOK
Accession:NM_080916
Location:3UTRS;EXON

Gene Symbol:DGUOK
Accession:NM_080918
Location:3UTRS;EXON

Gene Symbol:DGUOK
Accession:XM_011532647
Location:3UTRS;EXON

Gene Symbol:DGUOK
Accession:NM_001318861
Location:3UTRS;EXON

Gene Symbol:DGUOK
Accession:NM_001318862
Location:3UTRS;EXON

Gene Symbol:DGUOK
Accession:NM_001318859
Location:3UTRS;EXON

Gene Symbol:DGUOK
Accession:NM_001318860
Location:3UTRS;EXON

Gene Symbol:DGUOK
Accession:NM_001318863
Location:3UTRS;EXON

Gene Symbol:DGUOK
Accession:XM_047443587
Location:3UTRS;EXON

Gene Symbol:DGUOK
Accession:NR_134897
Location:EXON;NON-CODING

Gene Symbol:DGUOK
Accession:NR_134894
Location:EXON;NON-CODING

Gene Symbol:DGUOK
Accession:NR_134898
Location:EXON;NON-CODING

Gene Symbol:DGUOK
Accession:NR_134893
Location:EXON;NON-CODING

Gene Symbol:DGUOK
Accession:NR_134896
Location:EXON;NON-CODING

Gene Symbol:DGUOK
Accession:NR_134895
Location:EXON;NON-CODING

Gene Symbol:DGUOK
Accession:XM_047443585
Location:INTRON

Gene Symbol:DGUOK-AS1
Accession:NR_104030
Location:INTRON;NON-CODING

Gene Symbol:DGUOK-AS1
Accession:NR_104029
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000407082 CLINVAR
dbSNP (RS) rs886056323 CLINVAR
MedGen C5191055 CLINVAR
NCBI Gene DGUOK CLINVAR
  DGUOK-AS1 CLINVAR
OMIM 251880 CLINVAR
  601465 CLINVAR