RGD:14395109 Rat Genome Database

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Variant: RGD:14395109 -  Homo sapiens

RGD ID: 14395109
RS ID: rs1259690556
ClinVar ID: CV610858
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLG  POLGARF  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 89,867,311
GRCh38 15 89,324,080
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001126131.2:c.2070+27T>C
LRG_765t1:c.2070+27T>C
LRG_765:g.15716T>C
NG_008218.2:g.15716T>C
More... 		10/01/2018 intron variant likely benign Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis; Alpers disease; Alpers progressive infantile poliodystrophy; Alpers Syndrome; Alpers-Huttenlocher Syndrome; Diffuse cerebral degeneration in infancy; Infantile poliodystrophy; Mitochondrial DNA depletion syndrome 4a; Mitochondrial DNA depletion syndrome 4A (Alpers type); Neuronal degeneration of childhood with liver disease, progressive; Poliodystrophia cerebri progressiva; Progressive cerebral poliodystrophy
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:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000758508 CLINVAR
dbSNP (RS) rs1259690556 CLINVAR
MedGen C0205710 CLINVAR
NCBI Gene POLG CLINVAR
  POLGARF CLINVAR
OMIM 174763 CLINVAR
  203700 CLINVAR
SNOMED CT 20415001 CLINVAR