TTN c.107837A>C ;(p.H35946P)

Variant ID: 2-179391878-T-G

NM_001267550.1(TTN):c.107837A>C;(p.H35946P)

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: TTN: 107837A>C; His35946Pro
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: TTN: H35946P
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Increasing Role of Titin Mutations in Neuromuscular Disorders.

Journal Of Neuromuscular Diseases
Savarese, Marco M; Sarparanta, Jaakko J; Vihola, Anna A; Udd, Bjarne B; Hackman, Peter P
Publication Date: 2016-08-30

Variant appearance in text: TMD: 107837A>C
PubMed Link: 27854229
Variant Present in the following documents:
  • Main text
  • jnd-3-jnd160158.pdf
View BVdb publication page



The sarcomeric M-region: a molecular command center for diverse cellular processes.

Biomed Research International
Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A
Publication Date: 2015

Variant appearance in text: LGMD2J: H35946P
PubMed Link: 25961035
Variant Present in the following documents:
  • Main text
  • BMRI2015-714197.pdf
View BVdb publication page