PMID: 33864021

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.

Genetics in medicine : official journal of the American College of Medical Genetics
Martin-Almedina, Silvia S, Ogmen, Kazim K, Sackey, Ege E, Grigoriadis, Dionysios D, Karapouliou, Christina C, Nadarajah, Noeline N, Ebbing, Cathrine C, Lord, Jenny J, Mellis, Rhiannon R, Kortuem, Fanny F, Dinulos, Mary Beth MB, Polun, Cassandra C, Bale, Sherri S, Atton, Giles G, Robinson, Alexandra A, Reigstad, Hallvard H, Houge, Gunnar G, von der Wense, Axel A, Becker, Wolf-Henning WH, Jeffery, Steve S, Mortimer, Peter S PS, Gordon, Kristiana K, Josephs, Katherine S KS, Robart, Sarah S, Kilby, Mark D MD, Vallee, Stephanie S, Gorski, Jerome L JL, Hempel, Maja M, Berland, Siren S, Mansour, Sahar S, Ostergaard, Pia P
2021-07

21 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-100404994-C-T EPHB4 c.2327G>A p.S776N Missense 13/17 -
3-58097944-G-A FLNB c.2644G>A p.V882M Missense 18/46 -
5-86672840-G-A RASA1 c.2327G>A p.R776K Missense 17/25 -
3-58097954-A-G FLNB c.2654A>G p.N885S Missense 18/46 -
7-100403131-C-A EPHB4 c.2670G>T p.E890D Missense 15/17 -
1-55509636-A-C PCSK9 c.328A>C p.K110Q Missense 2/12 -
3-58095818-A-G FLNB c.2405A>G p.N802S Missense 16/46 -
7-100404997-G-A EPHB4 c.2324C>T p.T775M Missense 13/17 -
7-100403147-T-C EPHB4 c.2654A>G p.K885R Missense 15/17 -
7-100404181-A-C EPHB4 c.2345T>G p.I782S Missense 14/17 -
7-100405105-C-T EPHB4 c.2216G>A p.R739Q Missense 13/17 -
7-100405090-C-T EPHB4 c.2231G>A p.R744H Missense 13/17 -
7-100421349-T-G EPHB4 c.328A>C p.T110P Missense 3/17 -
7-100404121-T-C EPHB4 c.2405A>G p.D802G Missense 14/17 -
7-100405190-G-A EPHB4 c.2131C>T p.Q711* Nonsense 13/17 -
7-100417246-G-C EPHB4 c.1230C>G p.N410K Missense 6/17 -
7-100417246-G-T EPHB4 c.1230C>A p.N410K Missense 6/17 -
5-86672329-C-T RASA1 c.2131C>T p.R711* Nonsense 16/25 -
1-241669446-T-TG FH c.760dupC p.Q254Pfs*18 Frameshift 6/10 -
7-100419940-C-CG EPHB4 c.760_761insC p.S254Tfs*10 Frameshift 4/17 -
7-100403157-C-T EPHB4 c.2644G>A p.A882T Missense 15/17 -