RGD:28901645 Rat Genome Database

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Variant: RGD:28901645 -  Homo sapiens

RGD ID: 28901645
RS ID: rs1951035111
ClinVar ID: CV868619
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXRED1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 126,142,980
GRCh38 11 126,273,085
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017547.4:c.417+6T>C
NG_028029.1:g.9046T>C
NC_000011.10:g.126273085T>C
NC_000011.9:g.126142980T>C
More... 		01/12/2018 intron variant uncertain significance 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_006718879
Location:5UTRS;INTRON

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

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

Gene Symbol:FOXRED1
Accession:NM_017547
Location:INTRON

Gene Symbol:FOXRED1
Accession:XM_017018000
Location:INTRON

Gene Symbol:FOXRED1
Accession:XM_047427252
Location:INTRON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001104336 CLINVAR
dbSNP (RS) rs1951035111 CLINVAR
MedGen CN257533 CLINVAR
NCBI Gene FOXRED1 CLINVAR
OMIM 252010 CLINVAR
  613622 CLINVAR