TTN c.39492dup ;(p.E13165*)

Variant ID: 2-179516234-C-CA

NM_001267550.1(TTN):c.39492dup;(p.E13165*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Increasing Role of Titin Mutations in Neuromuscular Disorders.

Journal Of Neuromuscular Diseases
Savarese, Marco M; Sarparanta, Jaakko J; Vihola, Anna A; Udd, Bjarne B; Hackman, Peter P
Publication Date: 2016-08-30

Variant appearance in text: TMD: 39492dupT
PubMed Link: 27854229
Variant Present in the following documents:
  • Main text
  • jnd-3-jnd160158.pdf
View BVdb publication page