RGD:13837579 Rat Genome Database

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Variant: RGD:13837579 -  Homo sapiens

RGD ID: 13837579
RS ID: rs1335880349
ClinVar ID: CV588869
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLG  POLGARF  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 89,860,605
GRCh38 15 89,317,374
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_765t1:c.3643+2T>C
LRG_765:g.22422T>C
NG_008218.2:g.22422T>C
NC_000015.10:g.89317374A>G
More... 		05/06/2021 splice donor variant pathogenic Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis; Alpers disease; Alpers progressive infantile poliodystrophy; Alpers Syndrome; Alpers-Huttenlocher Syndrome; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Diffuse cerebral degeneration in infancy; Epilepsy, progressive myoclonic, type 5; Infantile poliodystrophy; Mitochondrial diseases; mitochondrial disorder; Mitochondrial DNA depletion syndrome 1; Mitochondrial DNA depletion syndrome 1 (MNGIE type); Mitochondrial DNA depletion syndrome 4a; Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4b; Mitochondrial DNA depletion syndrome 4B, MNGIE type; Mitochondrial DNA Depletion Syndrome, MNGIE Form; Mitochondrial neurogastrointestinal encephalomyopathy syndrome; Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED; MNGIE, POLG-RELATED; MNGIE, TYMP-RELATED; Neuronal degeneration of childhood with liver disease, progressive; none provided; Poliodystrophia cerebri progressiva; POLIP SYNDROME; POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION; Progressive cerebral poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1; Progressive external ophthalmoplegia, autosomal recessive 1; SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POLGARF
Accession:NM_001406557
Location:3UTRS;INTRON

Gene Symbol:POLG
Accession:NM_001126131
Location:INTRON

Gene Symbol:POLG
Accession:NM_002693
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:19500334   PMID:20691285   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000734043 CLINVAR
  RCV001037377 CLINVAR
  RCV001526407 CLINVAR
  RCV002507306 CLINVAR
dbSNP (RS) rs1335880349 CLINVAR
MedGen C0205710 CLINVAR
  C0751651 CLINVAR
  C3661900 CLINVAR
NCBI Gene POLG CLINVAR
  POLGARF CLINVAR
OMIM 157640 CLINVAR
  174763 CLINVAR
  203700 CLINVAR
  258450 CLINVAR
  603041 CLINVAR
  607459 CLINVAR
  613662 CLINVAR
  620759 CLINVAR
SNOMED CT 20415001 CLINVAR