PTEN c.499_505del ;(p.T167Pfs*14)

Variant ID: 10-89711881-AACTATTC-A

NM_000314.4(PTEN):c.499_505del;(p.T167Pfs*14)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes.

The American Journal Of Surgical Pathology
Kurek, Kyle C KC; Howard, Emily E; Tennant, L B LB; Upton, Joseph J; Alomari, Ahmad I AI; Burrows, Patricia E PE; Chalache, Kim K; Harris, David J DJ; Trenor, Cameron C CC; Eng, Charis C; Fishman, Steven J SJ; Mulliken, John B JB; Perez-Atayde, Antonio R AR; Kozakewich, Harry P W HP
Publication Date: 2012-05

Variant appearance in text: PTEN: 499_505del
PubMed Link: 22446940
Variant Present in the following documents:
  • Main text
View BVdb publication page



The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

Journal Of Medical Genetics
Tan, Wen-Hann WH; Baris, Hagit N HN; Burrows, Patricia E PE; Robson, Caroline D CD; Alomari, Ahmad I AI; Mulliken, John B JB; Fishman, Steven J SJ; Irons, Mira B MB
Publication Date: 2007-09

Variant appearance in text: PTEN: 499_505del
PubMed Link: 17526801
Variant Present in the following documents:
  • Main text
View BVdb publication page