LPL c.720G>T ;(p.Q240H)

Variant ID: 8-19811809-G-T

NM_000237.2(LPL):c.720G>T;(p.Q240H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: LPL: Q240H
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_Article_669.pdf
View BVdb publication page



Lipemia retinalis in a 27 day old neonate: A case report.

Indian Journal Of Ophthalmology
Shinkre, Noopur DeokinandanNayak ND; Usgaonkar, Ugam P S UPS
Publication Date: 2019-06

Variant appearance in text: LPL: Q240H
PubMed Link: 31124530
Variant Present in the following documents:
  • Main text
  • IJO-67-954.pdf
View BVdb publication page



Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.

Lipids In Health And Disease
Soto, Angela Ganan AG; McIntyre, Adam A; Agrawal, Sungeeta S; Bialo, Shara R SR; Hegele, Robert A RA; Boney, Charlotte M CM
Publication Date: 2015-09-04

Variant appearance in text: LPL: Q240H
PubMed Link: 26337181
Variant Present in the following documents:
  • Main text
  • 12944_2015_Article_107.pdf
View BVdb publication page