RGD:156237490 Rat Genome Database

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Variant: RGD:156237490 -  Homo sapiens

RGD ID: 156237490
ClinVar ID: CV1882215
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLG  POLGARF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 89,864,958
GRCh38 15 89,321,727
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.2598+9C>T
NM_002693.3:c.2598+9C>T
LRG_765:g.18069C>T
NG_008218.2:g.18069C>T
More... 		08/31/2022 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_002693
Location:INTRON

Gene Symbol:POLG
Accession:NM_001126131
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003085619 CLINVAR
MedGen C0205710 CLINVAR
NCBI Gene POLG CLINVAR
  POLGARF CLINVAR
OMIM 174763 CLINVAR
  203700 CLINVAR
SNOMED CT 20415001 CLINVAR