RGD:126765496 Rat Genome Database

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Variant: RGD:126765496 -  Homo sapiens

RGD ID: 126765496
RS ID: rs2099302909
ClinVar ID: CV990043
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TLR3  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 187,000,000
GRCh38 4 186,078,846
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003265.3:c.448A>T
LRG_117:g.14692A>T
NG_007278.1:g.14692A>T
NC_000004.12:g.186078846A>T
More... 		02/06/2020 missense variant uncertain significance ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1; Herpes simplex encephalitis 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TLR3
Accession:NM_003265
Location:EXON
Amino Acid Prediction: I to F (nonsynonymous)
Amino Acid Position: 150
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRQTLPCIYFWGGLLPFGMLCASSTTKCTVSHEVADCSHLKLTQVPDDLPTNITVLNLTHNQLRRLPAANFTRYSQLTSL
DVGFNTISKLEPELCQKLPMLKVLNLQHNELSQLSDKTFAFCTNLTELHLMSNSIQKIKNNPFVKQKNLFTLDLSHNGLS
STKLGTQVQLENLQELLLSNNKIQALKSEELDIFANSSLKKLELSSNQIKEFSPGCFHAIGRLFGLFLNNVQLGPSLTEK
LCLELANTSIRNLSLSNSQLSTTSNTTFLGLKWTNLTMLDLSYNNLNVVGNDSFAWLPQLEYFFLEYNNIQHLFSHSLHG
LFNVRYLNLKRSFTKQSISLASLPKIDDFSFQWLKCLEHLNMEDNDIPGIKSNMFTGLINLKYLSLSNSFTSLRTLTNET
FVSLAHSPLHILNLTKNKISKIESDAFSWLGHLEVLDLGLNEIGQELTGQEWRGLENIFEIYLSYNKYLQLTRNSFALVP
SLQRLMLRRVALKNVDSSPSPFQPLRNLTILDLSNNNIANINDDMLEGLEKLEILDLQHNNLARLWKHANPGGPIYFLKG
LSHLHILNLESNGFDEIPVEVFKDLFELKIIDLGLNNLNTLPASVFNNQVSLKSLNLQKNLITSVEKKVFGPAFRNLTEL
DMRFNPFDCTCESIAWFVNWINETHTNIPELSSHYLCNTPPHYHGFPVRLFDTSSCKDSAPFELFFMINTSILLIFIFIV
LLIHFEGWRISFYWNVSVHRVLGFKEIDRQTEQFEYAAYIIHAYKDKDWVWEHFSSMEKEDQSLKFCLEERDFEAGVFEL
EAIVNSIKRSRKIIFVITHHLLKDPLCKRFKVHHAVQQAIEQNLDSIILVFLEEIPDYKLNHALCLRRGMFKSHCILNWP
VQKERIGAFRHKLQVALGSKNSVH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001301512 CLINVAR
dbSNP (RS) rs2099302909 CLINVAR
MedGen C2750180 CLINVAR
NCBI Gene TLR3 CLINVAR
OMIM 603029 CLINVAR
  610551 CLINVAR