PTEN c.734_737del ;(p.Q245Rfs*10)

Variant ID: 10-89717707-TCAGC-T

NM_000314.4(PTEN):c.734_737del;(p.Q245Rfs*10)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.

Oncoscience
Yakubov, Eduard E; Ghoochani, Ali A; Buslei, Rolf R; Buchfelder, Michael M; EyĆ¼poglu, Ilker Y IY; Savaskan, Nicolai N
Publication Date: 2016

Variant appearance in text: MMAC1: 734_737del
PubMed Link: 27489861
Variant Present in the following documents:
  • oncoscience-03-149-s001.pdf
View BVdb publication page



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: 734_737del; Gln245Argfs*10
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: 734_737del; Gln245Argfs*10
PubMed Link: 24778394
Variant Present in the following documents:
  • Main text
View BVdb publication page