RGD:13462877 Rat Genome Database

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Variant: RGD:13462877 -  Homo sapiens

RGD ID: 13462877
RS ID: rs113312523
ClinVar ID: CV439025
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLCG2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 81,942,003
GRCh38 16 81,908,398
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_376:g.174302C>T
NG_032019.2:g.174302C>T
NC_000016.10:g.81908398C>T
NC_000016.9:g.81942003C>T
More... 		11/29/2023 intron variant benign|likely benign ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION; Autoinflammation, antibody deficiency, and immune dysregulation syndrome; Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation; FAMILIAL ATYPICAL COLD URTICARIA; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PLCG2
Accession:NM_002661
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000514994 CLINVAR
  RCV001519634 CLINVAR
  RCV002476030 CLINVAR
dbSNP (RS) rs113312523 CLINVAR
MedGen C3280914 CLINVAR
  C3661900 CLINVAR
NCBI Gene PLCG2 CLINVAR
OMIM 600220 CLINVAR
  614468 CLINVAR
  614878 CLINVAR