RGD:28910664 Rat Genome Database

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Variant: RGD:28910664 -  Homo sapiens

RGD ID: 28910664
RS ID: rs565803591
ClinVar ID: CV896476
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AARS2  POLR1C  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 44,267,836
GRCh38 6 44,300,099
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020745.4:c.*448G>T
NG_031952.1:g.18228G>T
NC_000006.12:g.44300099C>A
NC_000006.11:g.44267836C>A
More... 		01/12/2018 3 prime utr variant uncertain significance CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE; Combined oxidative phosphorylation deficiency 8
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AARS2
Accession:NM_020745
Location:3UTRS;EXON

Gene Symbol:AARS2
Accession:XM_005249245
Location:3UTRS;EXON

Gene Symbol:POLR1C
Accession:NM_203290
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001318876
Location:INTRON

Gene Symbol:POLR1C
Accession:XM_047419577
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001363658
Location:INTRON

Gene Symbol:AARS2
Accession:XR_007059282
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001161617 CLINVAR
dbSNP (RS) rs565803591 CLINVAR
MedGen C4518839 CLINVAR
NCBI Gene AARS2 CLINVAR
  POLR1C CLINVAR
OMIM 610060 CLINVAR
  612035 CLINVAR
  614096 CLINVAR