LCAT c.950T>G ;(p.M317R)

Variant ID: 16-67974180-A-C

NM_000229.1(LCAT):c.950T>G;(p.M317R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.

Journal Of Lipid Research
Vitali, Cecilia C; Bajaj, Archna A; Nguyen, Christina C; Schnall, Jill J; Chen, Jinbo J; Stylianou, Kostas K; Rader, Daniel J DJ; Cuchel, Marina M
Publication Date: 2022-03

Variant appearance in text: LCAT: 950T>G; Met317Arg
PubMed Link: 35065092
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal Of Lipid Research
Geller, Andrew S AS; Polisecki, Eliana Y EY; Diffenderfer, Margaret R MR; Asztalos, Bela F BF; Karathanasis, Sotirios K SK; Hegele, Robert A RA; Schaefer, Ernst J EJ
Publication Date: 2018-12

Variant appearance in text: LCAT: 950T>G; M317R
PubMed Link: 30333156
Variant Present in the following documents:
  • Main text
View BVdb publication page