TTN c.104509_104510del ;(p.L34837Efs*12)

Variant ID: 2-179396832-CAG-C

NM_001267550.1(TTN):c.104509_104510del;(p.L34837Efs*12)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


In Vitro Fertilization Using Preimplantation Genetic Testing in a Romanian Couple Carrier of Mutations in the TTN Gene: A Case Report and Literature Review.

Diagnostics (Basel, Switzerland)
Doroftei, Bogdan B; Maftei, Radu R; Ilie, Ovidiu-Dumitru OD; Armeanu, Theodora T; Puiu, Maria M; Ivanov, Iuliu I; Nemtanu, Loredana L
Publication Date: 2021-12-10

Variant appearance in text: TTN: 104509_104510del
PubMed Link: 34943567
Variant Present in the following documents:
  • Main text
  • diagnostics-11-02328.pdf
View BVdb publication page



In Vitro Fertilization Using Preimplantation Genetic Testing in a Romanian Couple Carrier of Mutations in the TTN Gene: A Case Report and Literature Review.

Diagnostics (Basel, Switzerland)
Doroftei, Bogdan B; Maftei, Radu R; Ilie, Ovidiu-Dumitru OD; Armeanu, Theodora T; Puiu, Maria M; Ivanov, Iuliu I; Nemtanu, Loredana L
Publication Date: 2021-12-10

Variant appearance in text: TTN: 104509_104510del
PubMed Link: 34943567
Variant Present in the following documents:
  • Main text
  • diagnostics-11-02328.pdf
View BVdb publication page



Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Annals Of Neurology
Oates, Emily C EC; Jones, Kristi J KJ; Donkervoort, Sandra S; Charlton, Amanda A; Brammah, Susan S; Smith, John E JE; Ware, James S JS; Yau, Kyle S KS; Swanson, Lindsay C LC; Whiffin, Nicola N; Peduto, Anthony J AJ; Bournazos, Adam A; Waddell, Leigh B LB; Farrar, Michelle A MA; Sampaio, Hugo A HA; Teoh, Hooi Ling HL; Lamont, Phillipa J PJ; Mowat, David D; Fitzsimons, Robin B RB; Corbett, Alastair J AJ; Ryan, Monique M MM; O'Grady, Gina L GL; Sandaradura, Sarah A SA; Ghaoui, Roula R; Joshi, Himanshu H; Marshall, Jamie L JL; Nolan, Melinda A MA; Kaur, Simranpreet S; Punetha, Jaya J; Töpf, Ana A; Harris, Elizabeth E; Bakshi, Madhura M; Genetti, Casie A CA; Marttila, Minttu M; Werlauff, Ulla U; Streichenberger, Nathalie N; Pestronk, Alan A; Mazanti, Ingrid I; Pinner, Jason R JR; Vuillerot, Carole C; Grosmann, Carla C; Camacho, Ana A; Mohassel, Payam P; Leach, Meganne E ME; Foley, A Reghan AR; Bharucha-Goebel, Diana D; Collins, James J; Connolly, Anne M AM; Gilbreath, Heather R HR; Iannaccone, Susan T ST; Castro, Diana D; Cummings, Beryl B BB; Webster, Richard I RI; Lazaro, Leïla L; Vissing, John J; Coppens, Sandra S; Deconinck, Nicolas N; Luk, Ho-Ming HM; Thomas, Neil H NH; Foulds, Nicola C NC; Illingworth, Marjorie A MA; Ellard, Sian S; McLean, Catriona A CA; Phadke, Rahul R; Ravenscroft, Gianina G; Witting, Nanna N; Hackman, Peter P; Richard, Isabelle I; Cooper, Sandra T ST; Kamsteeg, Erik-Jan EJ; Hoffman, Eric P EP; Bushby, Kate K; Straub, Volker V; Udd, Bjarne B; Ferreiro, Ana A; North, Kathryn N KN; Clarke, Nigel F NF; Lek, Monkol M; Beggs, Alan H AH; Bönnemann, Carsten G CG; MacArthur, Daniel G DG; Granzier, Henk H; Davis, Mark R MR; Laing, Nigel G NG
Publication Date: 2018-06

Variant appearance in text: TMD: 104509_104510del
PubMed Link: 29691892
Variant Present in the following documents:
  • ANA-83-1105-s002.xlsx, sheet 1
View BVdb publication page