TTN c.1339G>T ;(p.E447*)

Variant ID: 2-179659185-C-A

NM_001267550.1(TTN):c.1339G>T;(p.E447*)

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:

GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.

International Journal Of Molecular Sciences
De Vilder, Eva Y G EY; Debacker, Jens J; Vanakker, Olivier M OM
Publication Date: 2017-01-25

Variant appearance in text: TMD: 1339G>T
PubMed Link: 28125048
Variant Present in the following documents:
  • Main text
  • ijms-18-00240.pdf
View BVdb publication page