RGD:13517522 Rat Genome Database

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Variant: RGD:13517522 -  Homo sapiens

RGD ID: 13517522
RS ID: rs1554064929
ClinVar ID: CV486804
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TLR3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 187,005,076
GRCh38 4 186,083,922
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_117t1:c.2236G>T
LRG_117p1:p.Glu746Ter
NP_003256.1:p.Glu746Ter
NM_003265.2:c.2236G>T
More... 		07/12/2021 nonsense risk factor Herpes simplex encephalitis 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TLR3
Accession:NM_003265
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 746
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRQTLPCIYFWGGLLPFGMLCASSTTKCTVSHEVADCSHLKLTQVPDDLPTNITVLNLTHNQLRRLPAANFTRYSQLTSL
DVGFNTISKLEPELCQKLPMLKVLNLQHNELSQLSDKTFAFCTNLTELHLMSNSIQKIKNNPFVKQKNLITLDLSHNGLS
STKLGTQVQLENLQELLLSNNKIQALKSEELDIFANSSLKKLELSSNQIKEFSPGCFHAIGRLFGLFLNNVQLGPSLTEK
LCLELANTSIRNLSLSNSQLSTTSNTTFLGLKWTNLTMLDLSYNNLNVVGNDSFAWLPQLEYFFLEYNNIQHLFSHSLHG
LFNVRYLNLKRSFTKQSISLASLPKIDDFSFQWLKCLEHLNMEDNDIPGIKSNMFTGLINLKYLSLSNSFTSLRTLTNET
FVSLAHSPLHILNLTKNKISKIESDAFSWLGHLEVLDLGLNEIGQELTGQEWRGLENIFEIYLSYNKYLQLTRNSFALVP
SLQRLMLRRVALKNVDSSPSPFQPLRNLTILDLSNNNIANINDDMLEGLEKLEILDLQHNNLARLWKHANPGGPIYFLKG
LSHLHILNLESNGFDEIPVEVFKDLFELKIIDLGLNNLNTLPASVFNNQVSLKSLNLQKNLITSVEKKVFGPAFRNLTEL
DMRFNPFDCTCESIAWFVNWINETHTNIPELSSHYLCNTPPHYHGFPVRLFDTSSCKDSAPFELFFMINTSILLIFIFIV
LLIHFEGWRISFYWNVSVHRVLGFK*IDRQTEQFEYAAYIIHAYKDKDWVWEHFSSMEKEDQSLKFCLEERDFEAGVFEL
EAIVNSIKRSRKIIFVITHHLLKDPLCKRFKVHHAVQQAIEQNLDSIILVFLEEIPDYKLNHALCLRRGMFKSHCILNWP
VQKERIGAFRHKLQVALGSKNSVH*
Variant Samples
Additional References at PubMed
PMID:21911422  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000590389 CLINVAR
dbSNP (RS) rs1554064929 CLINVAR
MedGen C2751803 CLINVAR
NCBI Gene TLR3 CLINVAR
OMIM 603029 CLINVAR
  613002 CLINVAR
OMIM Allele 603029.0003 CLINVAR