RGD:11609719 Rat Genome Database

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Variant: RGD:11609719 -  Homo sapiens

RGD ID: 11609719
RS ID: rs72554091
ClinVar ID: CV307240
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130000897  RRM2B  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 103,251,190
GRCh38 8 102,238,962
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_788t2:c.-88C>A
LRG_788:g.5157C>A
NG_016617.1:g.5157C>A
NC_000008.11:g.102238962G>T
More... 		06/23/2018 2kb upstream variant|5 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; none provided; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5; RRM2B-Related Chronic Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000287075 CLINVAR
  RCV000372168 CLINVAR
  RCV001692048 CLINVAR
dbSNP (RS) rs72554091 CLINVAR
MedGen C2749861 CLINVAR
  C2751319 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC130000897 CLINVAR
  RRM2B CLINVAR
OMIM 604712 CLINVAR
  612075 CLINVAR
  613077 CLINVAR