RGD:11608228 Rat Genome Database

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Variant: RGD:11608228 -  Homo sapiens

RGD ID: 11608228
RS ID: rs570233921
ClinVar ID: CV313214
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXRED1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 126,147,743
GRCh38 11 126,277,848
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.13809C>T
NC_000011.10:g.126277848C>T
NC_000011.9:g.126147743C>T
NM_017547.4:c.*159C>T
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_017018000
Location:3UTRS;EXON

Gene Symbol:FOXRED1
Accession:XM_047427252
Location:3UTRS;EXON

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000352350 CLINVAR
dbSNP (RS) rs570233921 CLINVAR
MedGen CN257533 CLINVAR
NCBI Gene FOXRED1 CLINVAR
OMIM 252010 CLINVAR
  613622 CLINVAR