From: Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
Gene | Position | Function | Software prediction |
---|---|---|---|
KCNH1 | chr1:211093321 | Missense | Polyphen: probably damaging |
C > T | c.1042G > A | Sift: damaging | |
p.(Gly348Arg) | Mutation taster: disease causing | ||
Fathmm: damaging | |||
STK36 | chr2:219558050 | Missense | Polyphen: possibly damaging |
T > C | c.2131 T > C | Sift: damaging | |
p.(Cys711Arg) | Mutation taster: disease causing | ||
Fathmm: tolerated | |||
ZNF517 | chr8:146033027 | Missense | Mutation taster:disease causing |
C > A | c.726C > A | ||
p.(Phe242Leu) |