TTN c.92478dup ;(p.V30827Sfs*22)

Variant ID: 2-179413874-C-CT

NM_001267550.1(TTN):c.92478dup;(p.V30827Sfs*22)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy.

Circulation. Genomic And Precision Medicine
Cowan, Jason R JR; Salyer, Lorien L; Wright, Nathan T NT; Kinnamon, Daniel D DD; Amaya, Pedro P; Jordan, Elizabeth E; Bamshad, Michael J MJ; Nickerson, Deborah A DA; Hershberger, Ray E RE
Publication Date: 2020-08

Variant appearance in text: TTN: 92478dupA; Val30827Serfs
PubMed Link: 32603605
Variant Present in the following documents:
  • Main text
View BVdb publication page