RGD:13621229 Rat Genome Database

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Variant: RGD:13621229 -  Homo sapiens

RGD ID: 13621229
RS ID: rs747078163
ClinVar ID: CV530877
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF13B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 16,875,373
GRCh38 17 16,972,059
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_120t1:c.17G>A
LRG_120:g.5030G>A
NG_007281.1:g.5030G>A
NC_000017.11:g.16972059C>T
More... 		05/03/2020 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: R to Q (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGLGQSRRGGRSRVDQEERFPQGLWTGVAMRSCPEEQYWDPLLGTCMSCKTICNHQSQRTCAAFCRSLSCRKEQGKFYD
HLLRDCISCASICGQHPKQCAYFCENKLRSPVNLPPELRRQRSGEVENNSDNSGRYQGLEHRGSEASPALPGLKLSADQV
ALVYSTLGLCLCAVLCCFLVAVACFLKKRGDPCSCQPRSRPRQSPAKSSQDHAMEAGSPVSTSPEPVETCSFCFPECRAP
TQESAVTPGTPDPTCAGRWGCHTRTTVLQPCPHIPDSGLGIVCVPAQEGGPGA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000648143 CLINVAR
dbSNP (RS) rs747078163 CLINVAR
MedGen C3150354 CLINVAR
NCBI Gene TNFRSF13B CLINVAR
OMIM 240500 CLINVAR
  604907 CLINVAR