LPL c.213C>T ;(p.H71=)

Variant ID: 8-19805815-C-T

NM_000237.2(LPL):c.213C>T;(p.H71=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Validation of Polygenic Risk Scores for Coronary Heart Disease in a Middle Eastern Cohort Using Whole Genome Sequencing.

Circulation. Genomic And Precision Medicine
Saad, Mohamad M; El-Menyar, Ayman A; Kunji, Khalid K; Ullah, Ehsan E; Al Suwaidi, Jassim J; Kullo, Iftikhar J IJ
Publication Date: 2022-10-12

Variant appearance in text: rs11542065
PubMed Link: 36252120
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 213C>T; His71=
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page