RGD:8692488 Rat Genome Database

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Variant: RGD:8692488 -  Homo sapiens

RGD ID: 8692488
RS ID: rs2302084
ClinVar ID: CV142457
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLG  POLGARF  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 89,862,341
GRCh38 15 89,319,110
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.10:g.89319110A>G
NC_000015.9:g.89862341A>G
NG_008218.2:g.20686T>C
LRG_765t1:c.3105-11T>C
More... 		10/01/2018 intron variant benign|likely benign AllHighlyPenetrant; 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; Fanconi pancytopenia; Fanconi's anemia; Infantile poliodystrophy; Mitochondrial DNA depletion syndrome 4a; Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B, MNGIE type; Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related; MNGIE, POLG-RELATED; Neuronal degeneration of childhood with liver disease, progressive; Poliodystrophia cerebri progressiva; Progressive cerebral poliodystrophy; 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-ophthalmoparesis syndrome

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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000153754 CLINVAR
  RCV000281377 CLINVAR
  RCV000284559 CLINVAR
  RCV000758546 CLINVAR
  RCV001789183 CLINVAR
  RCV001789184 CLINVAR
  RCV001789185 CLINVAR
  RCV001789186 CLINVAR
dbSNP (RS) rs2302084 CLINVAR
MedGen C0015625 CLINVAR
  C0205710 CLINVAR
  C1834846 CLINVAR
  C1843851 CLINVAR
  C3150914 CLINVAR
  C4225153 CLINVAR
  C4763519 CLINVAR
  CN169374 CLINVAR
NCBI Gene FANCI CLINVAR
  POLG CLINVAR
  POLGARF CLINVAR
OMIM 157640 CLINVAR
  174763 CLINVAR
  203700 CLINVAR
  227650 CLINVAR
  258450 CLINVAR
  607459 CLINVAR
  611360 CLINVAR
  613662 CLINVAR
SNOMED CT 20415001 CLINVAR
  30575002 CLINVAR