TTN c.91097_91100del ;(p.R30366Ifs*24)

Variant ID: 2-179416526-ATTTC-A

NM_001267550.1(TTN):c.91097_91100del;(p.R30366Ifs*24)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Molecular Genetics & Genomic Medicine
Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X
Publication Date: 2021-07

Variant appearance in text: TTN: 91097_91100delGAAA; Arg30366fs
PubMed Link: 34137518
Variant Present in the following documents:
  • MGG3-9-e1709-s003.xlsx, sheet 2
View BVdb publication page



Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Molecular Genetics & Genomic Medicine
Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X
Publication Date: 2021-07

Variant appearance in text: TTN: 91097_91100delGAAA; Arg30366fs
PubMed Link: 34137518
Variant Present in the following documents:
  • MGG3-9-e1709-s003.xlsx, sheet 2
View BVdb publication page



Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: TTN: 91097_91100delGAAA; Arg30366fs
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page