RGD:12834826 Rat Genome Database

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Variant: RGD:12834826 -  Homo sapiens

RGD ID: 12834826
RS ID: rs575543110
ClinVar ID: CV373618
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CARS2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 111,340,378
GRCh38 13 110,688,031
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000013.11:g.110688031T>G
NC_000013.10:g.111340378T>G
NM_024537.2:c.394-13A>C
NG_042045.2:g.30571A>C
More... 		09/24/2021 intron variant benign|likely benign Combined oxidative phosphorylation deficiency 27; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CARS2
Accession:NM_001352252
Location:5UTRS;INTRON

Gene Symbol:CARS2
Accession:XM_047430609
Location:5UTRS;INTRON

Gene Symbol:CARS2
Accession:NM_024537
Location:INTRON

Gene Symbol:CARS2
Accession:XM_006719953
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430607
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430608
Location:INTRON

Gene Symbol:CARS2
Accession:XM_011521118
Location:INTRON

Gene Symbol:CARS2
Accession:XM_017020742
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430606
Location:INTRON

Gene Symbol:CARS2
Accession:NM_001352253
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430605
Location:INTRON

Gene Symbol:CARS2
Accession:NR_147942
Location:INTRON;NON-CODING

Gene Symbol:CARS2
Accession:XR_001749667
Location:INTRON;NON-CODING

Gene Symbol:CARS2
Accession:NR_147941
Location:INTRON;NON-CODING

Gene Symbol:CARS2
Accession:XR_007063696
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001712384 CLINVAR
  RCV002059655 CLINVAR
dbSNP (RS) rs575543110 CLINVAR
MedGen C3661900 CLINVAR
  C5567608 CLINVAR
NCBI Gene CARS2 CLINVAR
OMIM 612800 CLINVAR
  616672 CLINVAR