TTN c.106121T>A ;(p.F35374Y)

Variant ID: 2-179395221-A-T

NM_001267550.1(TTN):c.106121T>A;(p.F35374Y)

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:

Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.

Npj Genomic Medicine
Yehia, Lamis L; Ni, Ying Y; Eng, Charis C
Publication Date: 2017

Variant appearance in text: TTN: 106121T>A
PubMed Link: 29263846
Variant Present in the following documents:
  • 41525_2017_39_MOESM1_ESM.pdf
View BVdb publication page