LIPC c.563G>A ;(p.G188E)

Variant ID: 15-58834839-G-A

NM_000236.2(LIPC):c.563G>A;(p.G188E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Hypertriglyceridemia Induced Acute Pancreatitis Caused by a Novel LIPC Gene Variant in a Pediatric Patient.

Children (Basel, Switzerland)
Balanescu, Laura L; Cardoneanu, Ancuta A; Stanciu, Gabriel G; Balanescu, Radu R; Minulescu, Cristian C; Pacurar, Daniela D; Moga, Andreea A
Publication Date: 2022-02-02

Variant appearance in text: LIPC: Gly188Glu
PubMed Link: 35204909
Variant Present in the following documents:
  • children-09-00188.pdf
View BVdb publication page



An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia.

Arteriosclerosis, Thrombosis, And Vascular Biology
Johansen, Christopher T CT; Wang, Jian J; Lanktree, Matthew B MB; McIntyre, Adam D AD; Ban, Matthew R MR; Martins, Rebecca A RA; Kennedy, Brooke A BA; Hassell, Reina G RG; Visser, Maartje E ME; Schwartz, Stephen M SM; Voight, Benjamin F BF; Elosua, Roberto R; Salomaa, Veikko V; O'Donnell, Christopher J CJ; Dallinga-Thie, Geesje M GM; Anand, Sonia S SS; Yusuf, Salim S; Huff, Murray W MW; Kathiresan, Sekar S; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2011-08

Variant appearance in text: LIPC: Gly188Glu
PubMed Link: 21597005
Variant Present in the following documents:
  • Main text
View BVdb publication page