RGD:127238148 Rat Genome Database

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Variant: RGD:127238148 -  Homo sapiens

RGD ID: 127238148
RS ID: rs755181593
ClinVar ID: CV1107758
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF13C  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 42,322,089
GRCh38 22 41,926,085
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_184:g.5733A>G
NG_007579.1:g.5733A>G
NM_052945.4:c.367+16A>G
NC_000022.11:g.41926085T>C
More...
10/26/2020 intron variant likely benign 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 RCV001433703 CLINVAR
dbSNP (RS) rs755181593 CLINVAR
MedGen C3150739 CLINVAR
NCBI Gene TNFRSF13C CLINVAR
OMIM 606269 CLINVAR
  613494 CLINVAR