RGD:8596433 Rat Genome Database

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Variant: RGD:8596433 -  Homo sapiens

RGD ID: 8596433
RS ID: rs8177374
ClinVar ID: CV19506
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127822973  TIRAP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 126,162,843
GRCh38 11 126,292,948
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011523.1:g.14862C>T
NC_000011.10:g.126292948C>T
NC_000011.9:g.126162843C>T
NP_001034750.1:p.Ser180Leu
More... 		07/15/2020 missense|missense variant pathogenic|benign|protective AllHighlyPenetrant; Bacteremia, resistance to; Bacteremia, susceptibility to, 1; Malaria, susceptibility to; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TIRAP
Accession:NM_148910
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSTSLPAPGSRPKKPLGKMADWFRQTLLKKPKKRPNSPESTSSDASQPTSQDSPLPPSLSSVTSPSLPPTHASDSGSS
RWSKDYDVCVCHSEEDLVAAQDLVSYLEGSTASLRCFLQLRDATPGGAIVSELCQALSSSHCRVLLITPGFLQDPWCKYQ
MLQALTEAPGAEGCTIPLLLGLSRAAYPPELRFMYYVDGRGPDGGFRQVKEAVMRCKLLQEGEGERDSATVSDLL*

Gene Symbol:TIRAP
Accession:NM_001318776
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSTSLPAPGSRPKKPLGKMADWFRQTLLKKPKKRPNSPESTSSDASQPTSQDSPLPPSLSSVTSPSLPPTHASDSGSS
RWSKDYDVCVCHSEEDLVAAQDLVSYLEGSTASLRCFLQLRDATPGGAIVSELCQALSSSHCRVLLITPGFLQDPWCKYQ
MLQALTEAPGAEGCTIPLLLGLSRAAYPPELRFMYYVDGRGPDGGFRQVKEAVMRCKLLQEGEGERDSATVSDLL*

Gene Symbol:TIRAP
Accession:NM_001318777
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSTSLPAPGSRPKKPLGKMADWFRQTLLKKPKKRPNSPESTSSDASQPTSQDSPLPPSLSSVTSPSLPPTHASDSGSS
RWSKDYDVCVCHSEEDLVAAQDLVSYLEGSTASLRCFLQLRDATPGGAIVSELCQALSSSHCRVLLITPGFLQDPWCKYQ
MLQALTEAPGAEGCTIPLLLGLSRAAYPPELRFMYYVDGRGPDGGFRQVKEAVMRYLQTLS*

Gene Symbol:TIRAP
Accession:NM_001039661
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSTSLPAPGSRPKKPLGKMADWFRQTLLKKPKKRPNSPESTSSDASQPTSQDSPLPPSLSSVTSPSLPPTHASDSGSS
RWSKDYDVCVCHSEEDLVAAQDLVSYLEGSTASLRCFLQLRDATPGGAIVSELCQALSSSHCRVLLITPGFLQDPWCKYQ
MLQALTEAPGAEGCTIPLLLGLSRAAYPPELRFMYYVDGRGPDGGFRQVKEAVMRYLQTLS*
Variant Samples
Additional References at PubMed
PMID:16991088   PMID:17322885   PMID:18305471   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000004722 CLINVAR
  RCV000004723 CLINVAR
  RCV000004724 CLINVAR
  RCV000023527 CLINVAR
  RCV001723536 CLINVAR
  RCV002490312 CLINVAR
  RCV003488326 CLINVAR
dbSNP (RS) rs8177374 CLINVAR
MedGen C1834752 CLINVAR
  C1969665 CLINVAR
  C1970686 CLINVAR
  C2720293 CLINVAR
  C3280646 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TIRAP CLINVAR
OMIM 606252 CLINVAR
  607948 CLINVAR
  611162 CLINVAR
  614382 CLINVAR
OMIM Allele 606252.0001 CLINVAR