PMID: 32369491

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.

PLoS genetics
Y Tanigawa, M Wainberg, J Karjalainen, T Kiiskinen, G Venkataraman, S Lemmelä, JA Turunen, RR Graham, AS Havulinna, M Perola, A Palotie, , MJ Daly, MA Rivas
2020-05

10 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-11253817-C-T MTOR c.4253+5498G>A - IntronicSNV - 28/57
1-11253684-G-T MTOR c.4253+5631C>A - IntronicSNV - 28/57
1-11253688-C-T MTOR c.4253+5627G>A - IntronicSNV - 28/57
1-171605478-G-A MYOC c.1102C>T p.Gln368* Nonsense 3/3 -
1-11253684-G-A MTOR c.4253+5631C>T - IntronicSNV - 28/57
1-11252357-A-G MTOR c.4253+6958T>C - IntronicSNV - 28/57
1-55505598-GCG-TTT PCSK9 c.88_90delGCGinsTTT p.Ala30Phe Missense 1/12 -
1-171621227-C-A MYOC c.525G>T p.Gln175His Missense 1/3 -
1-171621227-C-G MYOC c.525G>C p.Gln175His Missense 1/3 -
1-11252369-G-A MTOR c.4253+6946C>T - IntronicSNV - 28/57