LMNA c.1494G>A ;(p.W498*)

Variant ID: 1-156106909-G-A

NM_170707.3(LMNA):c.1494G>A;(p.W498*)

This variant was identified in 5 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: LMNA: 1494G>A; Trp498Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.

Cells
van Wijk, Stan W SW; Su, Wei W; Wijdeveld, Leonoor F J M LFJM; Ramos, Kennedy S KS; Brundel, Bianca J J M BJJM
Publication Date: 2022-01-25

Variant appearance in text: LMNA: W498*
PubMed Link: 35159226
Variant Present in the following documents:
  • Main text
  • cells-11-00416.pdf
View BVdb publication page



Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.

Cells
van Wijk, Stan W SW; Su, Wei W; Wijdeveld, Leonoor F J M LFJM; Ramos, Kennedy S KS; Brundel, Bianca J J M BJJM
Publication Date: 2022-01-25

Variant appearance in text: LMNA: W498*
PubMed Link: 35159226
Variant Present in the following documents:
  • Main text
  • cells-11-00416.pdf
View BVdb publication page



Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.

Journal Of Neuromuscular Diseases
Atalaia, Antonio A; Ben Yaou, Rabah R; Wahbi, Karim K; De Sandre-Giovannoli, Annachiara A; Vigouroux, Corinne C; Bonne, Gisèle G
Publication Date: 2021

Variant appearance in text: LMNA: 1494G>A
PubMed Link: 33682723
Variant Present in the following documents:
  • jnd-8-jnd200596-s002.xlsx, sheet 1
View BVdb publication page



Atrial fibrillation-a complex polygenetic disease.

European Journal Of Human Genetics : Ejhg
Andersen, Julie H JH; Andreasen, Laura L; Olesen, Morten S MS
Publication Date: 2021-07

Variant appearance in text: LMNA: 1494G>A; Trp498*
PubMed Link: 33279945
Variant Present in the following documents:
  • 41431_2020_784_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Atrial Fibrillation Genetics Update: Toward Clinical Implementation.

Frontiers In Cardiovascular Medicine
Kalstø, Silje Madeleine SM; Siland, Joylene Elisabeth JE; Rienstra, Michiel M; Christophersen, Ingrid E IE
Publication Date: 2019

Variant appearance in text: LMNA: Trp498Ter
PubMed Link: 31552271
Variant Present in the following documents:
  • Main text
  • fcvm-06-00127.pdf
View BVdb publication page