TTN c.101529G>C ;(p.K33843N)

Variant ID: 2-179399813-C-G

NM_001267550.1(TTN):c.101529G>C;(p.K33843N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy.

Molecular Genetics & Genomic Medicine
Gaertner-Rommel, Anna A; Tiesmeier, Jens J; Jakob, Thomas T; Strickmann, Bernd B; Veit, Gunter G; Bachmann-Mennenga, Bernd B; Paluszkiewicz, Lech L; Klingel, Karin K; Schulz, Uwe U; Laser, Kai T KT; Karger, Bernd B; Pfeiffer, Heidi H; Milting, Hendrik H
Publication Date: 2019-08

Variant appearance in text: TTN: 101529G>C; Lys33843Asn; rs377406091
PubMed Link: 31293105
Variant Present in the following documents:
  • Main text
  • MGG3-7-e841.pdf
View BVdb publication page