TTN c.107430_107488del ;(p.S35811Lfs*11)

Variant ID: 2-179392365-GCCTCCTGCTTGGAGGCAGACATTTGGACTGACTGAGACGAGAAGCTTCCTTGCAAGCTT-G

NM_001267550.1(TTN):c.107430_107488del;(p.S35811Lfs*11)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy.

Molecular Genetics & Genomic Medicine
Rich, Kelly A KA; Moscarello, Tia T; Siskind, Carly C; Brock, Guy G; Tan, Christopher A CA; Vatta, Matteo M; Winder, Thomas L TL; Elsheikh, Bakri B; Vicini, Leah L; Tucker, Brianna B; Palettas, Marilly M; Hershberger, Ray E RE; Kissel, John T JT; Morales, Ana A; Roggenbuck, Jennifer J
Publication Date: 2020-10

Variant appearance in text: TTN: 96076_107488del
PubMed Link: 32815318
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1460.pdf
View BVdb publication page



A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy.

Molecular Genetics & Genomic Medicine
Roggenbuck, Jennifer J; Rich, Kelly K; Morales, Ana A; Tan, Christopher A CA; Eck, Douglas D; King, Wendy W; Vatta, Matteo M; Winder, Thomas T; Elsheikh, Bakri B; Hershberger, Ray E RE; Kissel, John T JT
Publication Date: 2019-11

Variant appearance in text: TTN: 96076_107488del
PubMed Link: 31489791
Variant Present in the following documents:
  • Main text
  • MGG3-7-e924.pdf
View BVdb publication page