RGD:15165058 Rat Genome Database

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Variant: RGD:15165058 -  Homo sapiens

RGD ID: 15165058
RS ID: rs150974807
ClinVar ID: CV727012
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF13B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 16,843,678
GRCh38 17 16,940,364
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012452.3:c.593G>A
NG_007281.1:g.36725G>A
NC_000017.11:g.16940364C>T
NC_000017.10:g.16843678C>T
More... 		12/31/2019 missense variant likely benign|conflicting interpretations of pathogenicity 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 H (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGLGRSRRGGRSRVDQEERFPQGLWTGVAMRSCPEEQYWDPLLGTCMSCKTICNHQSQRTCAAFCRSLSCRKEQGKFYD
HLLRDCISCASICGQHPKQCAYFCENKLRSPVNLPPELRRQRSGEVENNSDNSGRYQGLEHRGSEASPALPGLKLSADQV
ALVYSTLGLCLCAVLCCFLVAVACFLKKRGDPCSCQPHSRPRQSPAKSSQDHAMEAGSPVSTSPEPVETCSFCFPECRAP
TQESAVTPGTPDPTCAGRWGCHTRTTVLQPCPHIPDSGLGIVCVPAQEGGPGA*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000882331 CLINVAR
dbSNP (RS) rs150974807 CLINVAR
MedGen C3150354 CLINVAR
NCBI Gene TNFRSF13B CLINVAR
OMIM 240500 CLINVAR
  604907 CLINVAR