PLCG2 (NM_002661.3) sequence variants

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for PLCG2 : 13

* If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
exon 2c.176A>Gp.(Asp59Gly)Uncertain significance (VOUS)To be validated
exon 6c.505A>Gp.(Ile169Val)Uncertain significance (VOUS)To be validated
exon 9c.707C>Tp.(Pro236Leu)Uncertain significance (VOUS)To be validated
intron 15c.1468-1G>Tp.?Likely pathogenicTo be validated
exon 16c.1526T>Cp.(Ile509Thr)Uncertain significance (VOUS)To be validated
exon 19c.1935-521_2054+5385delp.(Trp646_Arg685del)Not classifiedTo be validated
exon 19c.1935-322_2054+4100delp.(Trp646_Arg685del)Not classifiedTo be validated
exon 20c.2055-1396_2417+2699delp.(Ala686_Arg685del)Not classifiedTo be validated
exon 20c.2120C>Ap.(Ser707Tyr)Not classifiedTo be validated
exon 22c.2393A>Gp.(Asn798Ser)Not classifiedTo be validated
exon 23c.2497G>Ap.(Glu833Lys)Not classifiedTo be validated
exon 24c.2543T>Cp.(Leu848Pro)Not classifiedTo be validated
3UTc.*35T>Cp.?Not classifiedTo be validated