RGD:13520784 Rat Genome Database

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Variant: RGD:13520784 -  Homo sapiens

RGD ID: 13520784
RS ID: rs1555066709
ClinVar ID: CV495519
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXRED1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 126,146,966
GRCh38 11 126,277,071
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028029.1:g.13032C>T
NC_000011.10:g.126277071C>T
NC_000011.9:g.126146966C>T
NP_060017.1:p.Gln368Ter
More... 		01/16/2022 non-coding transcript variant|nonsense pathogenic|likely pathogenic none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FOXRED1
Accession:XM_017018002
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESNVKVQRQEGAKVSLMSPDQLRNKFPWINTEGVALASYGMEDEGWFDPWCLLQGLRRKVQSLGVLFCQGEVTRFVSSS
QRMLTTDDKAVVLKRIHEVHVKMDRSLEYQPVECAIVINAAGAWSAQIAALAGVGEGPPGTLQGTKLPVEPRKRYVYVWH
CPQGPGLETPLVADTSGAYFRREGLGSNYLGGRSPTE*EEPDPANLEVDHDFFQDKVWPHLALRVPAFETLKVQSAWAGY
YDYNTFDQNGVVGPHPLVVNMYFATGFSGHGLQQAPGIGRAVAEMVLKGRFQTIDLSPFLFTRFYLGEKIQENNII*

Gene Symbol:FOXRED1
Accession:NM_017547
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 368
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIRRVLPHGMGRGLLTRRPGTRRGGFSLDWDGKVSEIKKKIKSILPGRSCDLLQDTSHLPPEHSDVVIVGGGVLGLSVAY
WLKKLESRRGAIRVLVVERDHTYSQASTGLSVGGICQQFSLPENIQLSLFSASFLRNINEYLAVVDAPPLDLRFNPSGYL
LLASEKDAAAMESNVKVQRQEGAKVSLMSPDQLRNKFPWINTEGVALASYGMEDEGWFDPWCLLQGLRRKVQSLGVLFCQ
GEVTRFVSSSQRMLTTDDKAVVLKRIHEVHVKMDRSLEYQPVECAIVINAAGAWSAQIAALAGVGEGPPGTLQGTKLPVE
PRKRYVYVWHCPQGPGLETPLVADTSGAYFRREGLGSNYLGGRSPTE*EEPDPANLEVDHDFFQDKVWPHLALRVPAFET
LKVQSAWAGYYDYNTFDQNGVVGPHPLVVNMYFATGFSGHGLQQAPGIGRAVAEMVLKGRFQTIDLSPFLFTRFYLGEKI
QENNII*

Gene Symbol:FOXRED1
Accession:XM_006718879
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESNVKVQRQEGAKVSLMSPDQLRNKFPWINTEGVALASYGMEDEGWFDPWCLLQGLRRKVQSLGVLFCQGEVTRFVSSS
QRMLTTDDKAVVLKRIHEVHVKMDRSLEYQPVECAIVINAAGAWSAQIAALAGVGEGPPGTLQGTKLPVEPRKRYVYVWH
CPQGPGLETPLVADTSGAYFRREGLGSNYLGGRSPTE*EEPDPANLEVDHDFFQDKVWPHLALRVPAFETLKVQSAWAGY
YDYNTFDQNGVVGPHPLVVNMYFATGFSGHGLQQAPGIGRAVAEMVLKGRFQTIDLSPFLFTRFYLGEKIQENNII*

Gene Symbol:FOXRED1
Accession:XM_047427253
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDEGWFDPWCLLQGLRRKVQSLGVLFCQGEVTRFVSSSQRMLTTDDKAVVLKRIHEVHVKMDRSLEYQPVECAIVINAA
GAWSAQIAALAGVGEGPPGTLQGTKLPVEPRKRYVYVWHCPQGPGLETPLVADTSGAYFRREGLGSNYLGGRSPTE*EEP
DPANLEVDHDFFQDKVWPHLALRVPAFETLKVQSAWAGYYDYNTFDQNGVVGPHPLVVNMYFATGFSGHGLQQAPGIGRA
VAEMVLKGRFQTIDLSPFLFTRFYLGEKIQENNII*

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

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

Gene Symbol:FOXRED1
Accession:XM_017018000
Location:INTRON

Gene Symbol:FOXRED1
Accession:XM_047427252
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000598917 CLINVAR
  RCV002532695 CLINVAR
dbSNP (RS) rs1555066709 CLINVAR
MedGen C0950123 CLINVAR
  CN517202 CLINVAR
NCBI Gene FOXRED1 CLINVAR
OMIM 613622 CLINVAR