TTN c.90844del ;(p.T30282Rfs*8)

Variant ID: 2-179416782-GT-G

NM_001267550.1(TTN):c.90844del;(p.T30282Rfs*8)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.

Circulation. Genomic And Precision Medicine
Morales, Ana A; Kinnamon, Daniel D DD; Jordan, Elizabeth E; Platt, Julia J; Vatta, Matteo M; Dorschner, Michael O MO; Starkey, Carl A CA; Mead, Jonathan O JO; Ai, Tomohiko T; Burke, Wylie W; Gastier-Foster, Julie J; Jarvik, Gail P GP; Rehm, Heidi L HL; Nickerson, Deborah A DA; Hershberger, Ray E RE; , ; ,
Publication Date: 2020-04

Variant appearance in text: TTN: 90844delA
PubMed Link: 32160020
Variant Present in the following documents:
  • Main text
View BVdb publication page