LPL c.872G>A ;(p.C291Y)

Variant ID: 8-19813448-G-A

NM_000237.2(LPL):c.872G>A;(p.C291Y)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy.

Molecular Genetics & Genomic Medicine
Shi, Xiao-Lei XL; Yang, Qi Q; Pu, Na N; Li, Xiao-Yao XY; Chen, Wei-Wei WW; Zhou, Jing J; Li, Gang G; Tong, Zhi-Hui ZH; FĂ©rec, Claude C; Cooper, David N DN; Chen, Jian-Min JM; Li, Wei-Qin WQ
Publication Date: 2020-03

Variant appearance in text: LPL: 872G>A; Cys291Tyr
PubMed Link: 31962008
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1048.pdf
View BVdb publication page



Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides.

Yonsei Medical Journal
Lee, Chan Joo CJ; Oum, Chi Yoon CY; Lee, Yunbeom Y; Park, Sungha S; Kang, Seok Min SM; Choi, Donghoon D; Jang, Yangsoo Y; Lee, Ji Hyun JH; Lee, Sang Hak SH
Publication Date: 2018-01

Variant appearance in text: LPL: C291Y
PubMed Link: 29214790
Variant Present in the following documents:
  • Main text
  • ymj-59-148.pdf
View BVdb publication page



Loss of heterozygosity: what is it good for?

Bmc Medical Genomics
Ryland, Georgina L GL; Doyle, Maria A MA; Goode, David D; Boyle, Samantha E SE; Choong, David Y H DY; Rowley, Simone M SM; Li, Jason J; , ; Bowtell, David D L DD; Tothill, Richard W RW; Campbell, Ian G IG; Gorringe, Kylie L KL
Publication Date: 2015-08-01

Variant appearance in text: LPL: 872G>A; Cys291Tyr
PubMed Link: 26231170
Variant Present in the following documents:
  • 12920_2015_123_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page