PTEN c.302del ;(p.I101Tfs*12)

Variant ID: 10-89692818-AT-A

NM_000314.4(PTEN):c.302del;(p.I101Tfs*12)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series.

Genes
Buccoliero, Anna Maria AM; Giunti, Laura L; Moscardi, Selene S; Castiglione, Francesca F; Provenzano, Aldesia A; Sardi, Iacopo I; Scagnet, Mirko M; Genitori, Lorenzo L; Caporalini, Chiara C
Publication Date: 2022-03-31

Variant appearance in text: PTEN: 302delT
PubMed Link: 35456430
Variant Present in the following documents:
  • Main text
  • genes-13-00624.pdf
View BVdb publication page



A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10

Variant appearance in text: PTEN: 302del; Ile101ThrfsTer12
PubMed Link: 33568653
Variant Present in the following documents:
  • 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
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: 302delT; Ile101Thrfs*12
PubMed Link: 25669429
Variant Present in the following documents:
View BVdb publication page