LPL c.617T>C ;(p.V206A)

Variant ID: 8-19811706-T-C

NM_000237.2(LPL):c.617T>C;(p.V206A)

This variant was identified in 2 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: 617T>C; Val206Ala
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.

Journal Of Internal Medicine
Surendran, R P RP; Visser, M E ME; Heemelaar, S S; Wang, J J; Peter, J J; Defesche, J C JC; Kuivenhoven, J A JA; Hosseini, M M; Péterfy, M M; Kastelein, J J P JJ; Johansen, C T CT; Hegele, R A RA; Stroes, E S G ES; Dallinga-Thie, G M GM
Publication Date: 2012-08

Variant appearance in text: LPL: 617T>C; Val206Ala
PubMed Link: 22239554
Variant Present in the following documents:
  • Main text
View BVdb publication page