LDLR c.1A>C ;(p.M1?)

Variant ID: 19-11200225-A-C

NM_000527.4(LDLR):c.1A>C;(p.M1?)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: LDLR: 1A>C; Met1Leu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



mRNA Metabolism in Health and Disease.

Biomedicines
Romão, Luísa L
Publication Date: 2022-09-13

Variant appearance in text: LDLR: 1A>C
PubMed Link: 36140363
Variant Present in the following documents:
  • Main text
  • biomedicines-10-02262.pdf
View BVdb publication page



Two Novel Disease-Causing Mutations in the LDLR of Familial Hypercholesterolemia.

Frontiers In Genetics
Hu, Haochang H; Shu, Tian T; Ma, Jun J; Chen, Ruoyu R; Wang, Jian J; Wang, Shuangshuang S; Lin, Shaoyi S; Chen, Xiaomin X
Publication Date: 2021

Variant appearance in text: LDLR: 1A>C; Met1Leu
PubMed Link: 34970301
Variant Present in the following documents:
  • Main text
  • fgene-12-762587.pdf
View BVdb publication page



Characterization of Two Variants at Met 1 of the Human LDLR Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes.

Biomedicines
Graça, Rafael R; Fernandes, Rafael R; Alves, Ana Catarina AC; Menezes, Juliane J; Romão, Luísa L; Bourbon, Mafalda M
Publication Date: 2021-09-14

Variant appearance in text: LDLR: 1A>C
PubMed Link: 34572405
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01219.pdf
View BVdb publication page