PLCG2 (NM_002661.3) sequence variants

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for PLCG2 : 5

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

Usual name*
HGVS sequence name
HGVS protein name
Simple variant
Complex alleles
del_Exon19_5.9kbexon 19c.1935-521_2054+5385p.Trp646_Arg685del
del_Exon19_4.8kbexon 19c.1935-322_2054+4100p.Trp646_Arg685del
del_Exon20-22exon 20c.2055-1396_2417+2699p.Ala686_Arg685del
S707Yexon 20c.2120C>Ap.Ser707Tyr
E833Kexon 23c.2497G>Ap.Glu833Lys