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Table 3 TBX1 variants identified in patients harboring RIPPLY3 variants

From: A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication

Patients ID RIPPLY3 variants NP_061835.1 TBX1C variants TBX1C variants allele frequency
NM_080647.1 NP_542378.1 SNP CTD (n = 577) Control (n = 361) p value
F029 p.P30L c.1189A>C p.N397H rs72646967 0.521 0.495 0.39
F166 p.T52S
A002 p.D113N c.1189A>C p.N397H rs72646967 0.521 0.495 0.39
PI011 p.V179D c.928G>A p.G310C rs41298838 0.0561 0.0556 0.95
  1. CTD conotruncal heart defect