RGD:13624861 Rat Genome Database

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Variant: RGD:13624861 -  Homo sapiens

RGD ID: 13624861
RS ID: rs148098469
ClinVar ID: CV527743
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CARS2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 111,340,173
GRCh38 13 110,687,826
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.110687826C>A
NC_000013.10:g.111340173C>A
NP_078813.1:p.Val156Phe
NG_042045.2:g.30776G>T
More... 		12/03/2018 5 prime utr variant|missense variant uncertain significance Combined oxidative phosphorylation deficiency 27; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CARS2
Accession:XM_047430609
Location:5UTRS;INTRON

Gene Symbol:CARS2
Accession:NM_001352252
Location:5UTRS;INTRON

Gene Symbol:CARS2
Accession:XM_006719953
Location:INTRON

Gene Symbol:CARS2
Accession:XM_017020742
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430606
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430607
Location:INTRON

Gene Symbol:CARS2
Accession:NM_001352253
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430605
Location:INTRON

Gene Symbol:CARS2
Accession:XM_047430608
Location:INTRON

Gene Symbol:CARS2
Accession:XM_011521118
Location:INTRON

Gene Symbol:CARS2
Accession:NM_024537
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000652710 CLINVAR
  RCV001546303 CLINVAR
dbSNP (RS) rs148098469 CLINVAR
MedGen C3661900 CLINVAR
  C5567608 CLINVAR
NCBI Gene CARS2 CLINVAR
OMIM 612800 CLINVAR
  616672 CLINVAR