RGD:11583314 Rat Genome Database

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Variant: RGD:11583314 -  Homo sapiens

RGD ID: 11583314
RS ID: rs540839717
ClinVar ID: CV303716
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RRM2B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 103,216,872
GRCh38 8 102,204,644
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_788t1:c.*3489A>G
LRG_788t2:c.*3489A>G
NM_001172477.1:c.*3489A>G
LRG_788:g.39475A>G
More... 		01/13/2018 3 prime utr variant benign|likely benign Chronic Progressive External Ophthalmoplegia with Multiple mtDNA Deletions; MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy; MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5; RRM2B-Related Chronic Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

Variant Details
Variant Transcripts
Gene Symbol:RRM2B
Accession:NM_015713
Location:3UTRS;EXON

Gene Symbol:RRM2B
Accession:NM_001172477
Location:3UTRS;EXON

Gene Symbol:RRM2B
Accession:NM_001172478
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000265672 CLINVAR
  RCV000358061 CLINVAR
dbSNP (RS) rs540839717 CLINVAR
MedGen C2749861 CLINVAR
  C2751319 CLINVAR
NCBI Gene RRM2B CLINVAR
OMIM 604712 CLINVAR
  612075 CLINVAR
  613077 CLINVAR