RGD:10409729 Rat Genome Database

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Variant: RGD:10409729 -  Homo sapiens

RGD ID: 10409729
RS ID: rs368307265
ClinVar ID: CV211499
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXRED1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 126,139,071
GRCh38 11 126,269,176
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.5137A>G
NC_000011.10:g.126269176A>G
NC_000011.9:g.126139071A>G
NR_037647.2:n.23A>G
More... 		06/14/2016 5 prime utr variant benign|uncertain significance all ages AllHighlyPenetrant; 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:5UTRS;EXON

Gene Symbol:FOXRED1
Accession:XM_047427253
Location:5UTRS;EXON

Gene Symbol:FOXRED1
Accession:NM_017547
Location:5UTRS;EXON

Gene Symbol:FOXRED1
Accession:XM_017018002
Location:5UTRS;EXON

Gene Symbol:FOXRED1
Accession:XM_017018000
Location:5UTRS;EXON

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

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

Gene Symbol:FOXRED1
Accession:XM_006718879
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000196717 CLINVAR
  RCV000327076 CLINVAR
dbSNP (RS) rs368307265 CLINVAR
MedGen CN169374 CLINVAR
  CN257533 CLINVAR
NCBI Gene FOXRED1 CLINVAR
OMIM 252010 CLINVAR
  613622 CLINVAR