From: A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report
Base change
Exon number
Amino acid change
PolyPhen-2 analysis
SIFT analysis
MutationTaster analysis
c.892G > A
7
p.Glu298Lys
Probably damaging
Damaging
Disease causing