RGD:13622655 Rat Genome Database

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Variant: RGD:13622655 -  Homo sapiens

RGD ID: 13622655
RS ID: rs371117206
ClinVar ID: CV530814
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLCG2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 81,942,013
GRCh38 16 81,908,408
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_376:g.174312C>T
NG_032019.2:g.174312C>T
NC_000016.10:g.81908408C>T
NC_000016.9:g.81942013C>T
More... 		09/28/2017 intron variant 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

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 RCV000650053 CLINVAR
  RCV002493041 CLINVAR
  RCV003980265 CLINVAR
dbSNP (RS) rs371117206 CLINVAR
MedGen C3280914 CLINVAR
NCBI Gene PLCG2 CLINVAR
OMIM 600220 CLINVAR
  614468 CLINVAR
  614878 CLINVAR