Variant ID: 1-55509636-A-C

NM_174936.3(PCSK9):c.328A>C;(p.K110Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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
Publication Date: 2021-07

Variant appearance in text: FH3: 328A>C
PubMed Link: 33864021
Variant Present in the following documents:
  • 41436_2021_Article_1136.pdf
View BVdb publication page