RGD:28870378 Rat Genome Database

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Variant: RGD:28870378 -  Homo sapiens

RGD ID: 28870378
RS ID: rs372331667
ClinVar ID: CV891844
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127896424  TNFRSF13C  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 42,321,573
GRCh38 22 41,925,569
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007579.1:g.6249C>A
NC_000022.11:g.41925569G>T
NC_000022.10:g.42321573G>T
NM_052945.3:c.368-15C>A
More...
12/03/2021 intron variant conflicting interpretations of pathogenicity|uncertain significance ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TNFRSF13C
Accession:NM_052945
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001145340 CLINVAR
dbSNP (RS) rs372331667 CLINVAR
MedGen C3150739 CLINVAR
NCBI Gene TNFRSF13C CLINVAR
OMIM 606269 CLINVAR
  613494 CLINVAR