LDLR c.1323C>T ;(p.I441=)

Variant ID: 19-11224090-C-T

NM_000527.4(LDLR):c.1323C>T;(p.I441=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30

Variant appearance in text: LDLR: I441I
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
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: LDLR: 1323C>T; Ile441=
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Genetic Variants Associated with Colorectal Adenoma Susceptibility.

Plos One
Abulí, Anna A; Castells, Antoni A; Bujanda, Luis L; Lozano, Juan José JJ; Bessa, Xavier X; Hernández, Cristina C; Álvarez-Urturi, Cristina C; Pellisé, Maria M; Esteban-Jurado, Clara C; Hijona, Elizabeth E; Burón, Andrea A; Macià, Francesc F; Grau, Jaume J; Guayta, Rafael R; Castellví-Bel, Sergi S; Andreu, Montserrat M; ,
Publication Date: 2016

Variant appearance in text: rs5933
PubMed Link: 27078840
Variant Present in the following documents:
  • Main text
  • pone.0153084.pdf
View BVdb publication page