RGD:28889340 Rat Genome Database

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Variant: RGD:28889340 -  Homo sapiens

RGD ID: 28889340
RS ID: rs1950986906
ClinVar ID: CV903577
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXRED1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 126,141,455
GRCh38 11 126,271,560
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.9:g.126141455G>C
NR_037648.2:n.386G>C
NP_060017.1:p.Gly70Ala
NM_017547.4:c.209G>C
More... 		05/03/2020 missense variant likely pathogenic MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
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:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIRRVLPHGMGRGLLTRRPGTRRGGFSLDWDGKVSEIKKKIKSILPGRSCDLLQDTSHLPPEHSDVVIVAGGVLGLSVAY
WLKKLESRRGAIRVLVVERDHTYSQASTGLSVGGICQQFSLPENIQLSLFSASFLRNINEYLAVVDAPPLDLRFNPSGYL
LLASEKDAAAMESNVKVQRQEGAKVSLMSPDQLRNKFPWINTEGVALASYGMEDEGWFDPWCLLQGLRRKVQSLGVLFCQ
GEVTRFVSSSQRMLTTDDKAVVLKRIHEVHVKMDRSLEYQPVECAIVINAAGAWSAQIAALAGVGEGPPGTLQGTKLPVE
PRKRYVYVWHCPQGPGLETPLVADTSGAYFRREGLGSNYLGGRSPTEQEEPDPANLEVDHDFFQDKVWPHLALRVPAFET
LKVQSAWAGYYDYNTFDQNGVVGPHPLVVNMYFATGFSGHGLQQAPGIGRAVAEMVLKGRFQTIDLSPFLFTRFYLGEKI
QENNII*

Gene Symbol:FOXRED1
Accession:XM_017018000
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIRRVLPHGMGRGLLTRRPGTRRGGFSLDWDGKVSEIKKKIKSILPGRSCDLLQDTSHLPPEHSDVVIVAGGVLGLSVAY
WLKKLESRRGAIRVLVVERDHTYSQASTGLSVGGICQQFSLPENIQLSLFSASFLRNINEYLAVVDAPPLDLRFNPSGYL
LLASEKDAAAMESNVKVQRQEGAKVSLMSPDQLRNKFPWINTEGVALASYGMEDEGWFDPWCLLQGLRRKVQSLGVLFCQ
GEVTRFVSSSQRMLTTDDKAVVLKRIHEVHVKMDRSLEYQPVECAIVINAAGAWSAQIAALAGVGEGPPGTLQGTKLPVE
PRKRYVYVWHCPQGPGLETPLVADTSGAYFRREGLGSNYLGGRSPTEEEPDPANLEVDHDFFQDKVWPHLALRVPAFETL
KVQSAWAGYYDYNTFDQNGVVGPHPLVVNMYFATGFSGHGLQQAPGIGRAVAEMVLKGRFQTIDLSPFLFTRFYLGEKIQ
ENNII*

Gene Symbol:FOXRED1
Accession:XM_047427252
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHTGRTVGRLGEGDWDGKVSEIKKKIKSILPGRSCDLLQDTSHLPPEHSDVVIVAGGVLGLSVAYWLKKLESRRGAIRV
LVVERDHTYSQASTGLSVGGICQQFSLPENIQLSLFSASFLRNINEYLAVVDAPPLDLRFNPSGYLLLASEKDAAAMESN
VKVQRQEGAKVSLMSPDQLRNKFPWINTEGVALASYGMEDEGWFDPWCLLQGLRRKVQSLGVLFCQGEVTRFVSSSQRML
TTDDKAVVLKRIHEVHVKMDRSLEYQPVECAIVINAAGAWSAQIAALAGVGEGPPGTLQGTKLPVEPRKRYVYVWHCPQG
PGLETPLVADTSGAYFRREGLGSNYLGGRSPTEEEPDPANLEVDHDFFQDKVWPHLALRVPAFETLKVQSAWAGYYDYNT
FDQNGVVGPHPLVVNMYFATGFSGHGLQQAPGIGRAVAEMVLKGRFQTIDLSPFLFTRFYLGEKIQENNII*

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

Gene Symbol:FOXRED1
Accession:XM_006718879
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001169859 CLINVAR
dbSNP (RS) rs1950986906 CLINVAR
MedGen C4748791 CLINVAR
NCBI Gene FOXRED1 CLINVAR
OMIM 613622 CLINVAR
  618241 CLINVAR