RGD:11531356 Rat Genome Database

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Variant: RGD:11531356 -  Homo sapiens

RGD ID: 11531356
RS ID: rs536746349
ClinVar ID: CV247480
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DGUOK  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 74,177,701
GRCh38 2 73,950,574
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_001318861.2:c.153-11C>G
NM_080916.1:c.444-11C>G
NM_080916.2:c.444-11C>G
NG_008044.1:g.28749C>G
More... 		11/23/2021 intron variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity adult Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency; none provided; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DGUOK
Accession:NM_080916
Location:INTRON

Gene Symbol:DGUOK
Accession:NM_080918
Location:INTRON

Gene Symbol:DGUOK
Accession:XM_011532647
Location:INTRON

Gene Symbol:DGUOK
Accession:NM_001318861
Location:INTRON

Gene Symbol:DGUOK
Accession:NM_001318862
Location:INTRON

Gene Symbol:DGUOK
Accession:NM_001318859
Location:INTRON

Gene Symbol:DGUOK
Accession:NM_001318860
Location:INTRON

Gene Symbol:DGUOK
Accession:NM_001318863
Location:INTRON

Gene Symbol:DGUOK
Accession:XM_047443587
Location:INTRON

Gene Symbol:DGUOK
Accession:XM_047443585
Location:INTRON

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:18205204   PMID:23043144   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000239560 CLINVAR
  RCV000478803 CLINVAR
dbSNP (RS) rs536746349 CLINVAR
MedGen C3661900 CLINVAR
  C4310733 CLINVAR
NCBI Gene DGUOK CLINVAR
OMIM 601465 CLINVAR
  617070 CLINVAR
OMIM Allele 601465.0015 CLINVAR