PTEN c.486del ;(p.D162Efs*5)

Variant ID: 10-89693002-AC-A

NM_000314.4(PTEN):c.486del;(p.D162Efs*5)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review.

Diagnostic Pathology
Rahmatinejad, Zahra Z; Goshayeshi, Ladan L; Bergquist, Robert R; Goshayeshi, Lena L; Golabpour, Amin A; Hoseini, Benyamin B
Publication Date: 2023-04-04

Variant appearance in text: PTEN: 486delC
PubMed Link: 37016356
Variant Present in the following documents:
  • Main text
  • 13000_2023_Article_1331.pdf
View BVdb publication page



Cowden Syndrome with a Novel PTEN Mutation Presenting with Partial Epilepsy Related to Focal Cortical Dysplasia.

Internal Medicine (Tokyo, Japan)
Adachi, Tadashi T; Takigawa, Hiroshi H; Nomura, Takashi T; Watanabe, Yasuhiro Y; Kowa, Hisanori H
Publication Date: 2018-01-01

Variant appearance in text: PTEN: 486delC
PubMed Link: 29033429
Variant Present in the following documents:
  • Main text
  • 1349-7235-57-0097.pdf
View BVdb publication page