PTEN c.324del ;(p.D109Tfs*4)

Variant ID: 10-89692838-CT-C

NM_000314.4(PTEN):c.324del;(p.D109Tfs*4)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


KLLN epigenotype-phenotype associations in Cowden syndrome.

European Journal Of Human Genetics : Ejhg
Nizialek, Emily A EA; Mester, Jessica L JL; Dhiman, Vineet K VK; Smiraglia, Dominic J DJ; Eng, Charis C
Publication Date: 2015-11

Variant appearance in text: PTEN: 324delT; Asp109Thrfs*4
PubMed Link: 25669429
Variant Present in the following documents:
View BVdb publication page



Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Ngeow, Joanne J; Stanuch, Kim K; Mester, Jessica L JL; Barnholtz-Sloan, Jill S JS; Eng, Charis C
Publication Date: 2014-06-10

Variant appearance in text: PTEN: 324delT; Asp109Thrfs*4
PubMed Link: 24778394
Variant Present in the following documents:
  • Main text
View BVdb publication page