Truncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report

BMC Pediatrics

Table 1 The genetic characteristics and pathogenetic analysis of TANC2 mutation identified in this study

Gene	Location	Nucleotide alteration	Mutation type	MAF	GERP	LRT	MT	ACMG values
TANC2	chr17:63420303	c.4321C>T	Nonsense	NA	5.29	0	1	PVS1+PS2+PM2

MAF Minor allele frequency, GERP Genomic Evolutionary Rate Profiling, LRT Likelihood ratio test, MT Mutation Taster, NA Not available, ACMG American College of Medical Genetics and Genomics

ISSN: 1471-2431