TTN c.106407_106408del ;(p.E35470Rfs*11)

Variant ID: 2-179394810-TCA-T

NM_001267550.1(TTN):c.106407_106408del;(p.E35470Rfs*11)

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: TTN: 106407_106408del
PubMed Link: 27854229
Variant Present in the following documents:
  • Main text
View BVdb publication page