PLCG2 (NM_002661.5) sequence variants

Editor(s): Michael OMBRELLO   

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General web sites
LRG LRG_376  
DNA NC_000016.10 GRCh38.p13 ENSG00000197943 GRCh38.p13
  NC_000016.9   GRCh37.p13 ENSG00000197943 GRCh37.p13
mRNA NM_002661.5 ENST00000564138.6
CCDS CCDS42204.1  
Protein NP_002652.2 ENSP00000482457.1
NCBI Gene 5336  
OMIM Gene 600220  
OMIM Disease 614878    614468
Nomenclature HGNC  

PubMed of the initial paper:

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2,
causes a dominantly inherited autoinflammatory disease with immunodeficiency.

Zhou Q & al.


Other links: