PTEN c.930_931del ;(p.D310Efs*2)

Variant ID: 10-89720777-GAT-G

NM_000314.4(PTEN):c.930_931del;(p.D310Efs*2)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Hereditary Cancer In Clinical Practice
Henn, Jonas J; Spier, Isabel I; Adam, Ronja S RS; Holzapfel, Stefanie S; Uhlhaas, Siegfried S; Kayser, Katrin K; Plotz, Guido G; Peters, Sophia S; Aretz, Stefan S
Publication Date: 2019

Variant appearance in text: PTEN: 930_931delTA; Asp310Glufs*2
PubMed Link: 30680046
Variant Present in the following documents:
  • 13053_2018_102_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.

The Journal Of Allergy And Clinical Immunology
Chen, Hannah H HH; Händel, Norman N; Ngeow, Joanne J; Muller, James J; Hühn, Michael M; Yang, Huei-Ting HT; Heindl, Mario M; Berbers, Roos-Marijn RM; Hegazy, Ahmed N AN; Kionke, Janina J; Yehia, Lamis L; Sack, Ulrich U; Bläser, Frank F; Rensing-Ehl, Anne A; Reifenberger, Julia J; Keith, Julia J; Travis, Simon S; Merkenschlager, Andreas A; Kiess, Wieland W; Wittekind, Christian C; Walker, Lisa L; Ehl, Stephan S; Aretz, Stefan S; Dustin, Michael L ML; Eng, Charis C; Powrie, Fiona F; Uhlig, Holm H HH
Publication Date: 2017-02

Variant appearance in text: PTEN: 930_931delTA; Asp310GlufsX2
PubMed Link: 27477328
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page