RGD:13803013 Rat Genome Database

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Variant: RGD:13803013 -  Homo sapiens

RGD ID: 13803013
RS ID: rs773591883
ClinVar ID: CV570794
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF13B  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 16,855,883
GRCh38 17 16,952,569
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_120t1:c.76T>C
NG_007281.1:g.24520T>C
LRG_120p1:p.Trp26Arg
NP_036584.1:p.Trp26Arg
More... 		12/16/2019 missense variant uncertain significance ANTIBODY DEFICIENCY DUE TO TACI DEFECT; Hypogamma-globulinemia, acquired; HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY; Immunoglobulin deficiency, late-onset
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TNFRSF13B
Accession:NM_012452
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGLGRSRRGGRSRVDQEERFPQGLRTGVAMRSCPEEQYWDPLLGTCMSCKTICNHQSQRTCAAFCRSLSCRKEQGKFYD
HLLRDCISCASICGQHPKQCAYFCENKLRSPVNLPPELRRQRSGEVENNSDNSGRYQGLEHRGSEASPALPGLKLSADQV
ALVYSTLGLCLCAVLCCFLVAVACFLKKRGDPCSCQPRSRPRQSPAKSSQDHAMEAGSPVSTSPEPVETCSFCFPECRAP
TQESAVTPGTPDPTCAGRWGCHTRTTVLQPCPHIPDSGLGIVCVPAQEGGPGA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000698824 CLINVAR
dbSNP (RS) rs773591883 CLINVAR
MedGen C3150354 CLINVAR
NCBI Gene TNFRSF13B CLINVAR
OMIM 240500 CLINVAR
  604907 CLINVAR