RGD:11653726 Rat Genome Database

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Variant: RGD:11653726 -  Homo sapiens

RGD ID: 11653726
RS ID: rs886047983
ClinVar ID: CV319347
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXRED1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 126,147,976
GRCh38 11 126,278,081
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_028029.1:g.14042G>A
NC_000011.10:g.126278081G>A
NC_000011.9:g.126147976G>A
NM_017547.4:c.*392G>A
More... 		06/14/2016 3 prime utr variant uncertain significance all ages MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF; NADH-COENZYME Q REDUCTASE DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FOXRED1
Accession:XM_047427252
Location:3UTRS;EXON

Gene Symbol:FOXRED1
Accession:XM_047427253
Location:3UTRS;EXON

Gene Symbol:FOXRED1
Accession:XM_006718879
Location:3UTRS;EXON

Gene Symbol:FOXRED1
Accession:XM_017018000
Location:3UTRS;EXON

Gene Symbol:FOXRED1
Accession:XM_017018002
Location:3UTRS;EXON

Gene Symbol:FOXRED1
Accession:NM_017547
Location:3UTRS;EXON

Gene Symbol:FOXRED1
Accession:NR_037648
Location:EXON;NON-CODING

Gene Symbol:FOXRED1
Accession:NR_037647
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000312592 CLINVAR
dbSNP (RS) rs886047983 CLINVAR
MedGen CN257533 CLINVAR
NCBI Gene FOXRED1 CLINVAR
OMIM 252010 CLINVAR
  613622 CLINVAR