RGD:152070142 Rat Genome Database

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Variant: RGD:152070142 -  Homo sapiens

RGD ID: 152070142
RS ID: rs548625666
ClinVar ID: CV1622782
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CARS2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 111,319,836
GRCh38 13 110,667,489
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001352252.2:c.-1-16G>T
NM_001352253.3:c.786-16G>T
NM_024537.4:c.786-16G>T
NG_042045.2:g.51113G>T
More... 		07/09/2021 intron variant likely benign Combined oxidative phosphorylation deficiency 27
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:XM_017020742
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430608
Location:INTRON

Gene Symbol:CARS2
Accession:XM_006719953
Location:INTRON

Gene Symbol:CARS2
Accession:XM_011521118
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430606
Location:INTRON

Gene Symbol:CARS2
Accession:NM_001352253
Location:INTRON

Gene Symbol:CARS2
Accession:NM_024537
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430607
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_007063696
Location:INTRON;NON-CODING

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002209871 CLINVAR
dbSNP (RS) rs548625666 CLINVAR
MedGen C5567608 CLINVAR
NCBI Gene CARS2 CLINVAR
OMIM 612800 CLINVAR
  616672 CLINVAR