PTEN c.492+1del

Variant ID: 10-89693007-AG-A

NM_000314.4(PTEN):c.492+1del

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Orphanet Journal Of Rare Diseases
Pena-Couso, Laura L; Ercibengoa, María M; Mercadillo, Fátima F; Gómez-Sánchez, David D; Inglada-Pérez, Lucía L; Santos, María M; Lanillos, Javier J; Gutiérrez-Abad, David D; Hernández, Almudena A; Carbonell, Pablo P; Letón, Rocío R; Robledo, Mercedes M; Rodríguez-Antona, Cristina C; Perea, José J; Urioste, Miguel M; ,
Publication Date: 2022-02-28

Variant appearance in text: PTEN: 492+1delG
PubMed Link: 35227301
Variant Present in the following documents:
  • 13023_2021_2079_MOESM1_ESM.pdf
View BVdb publication page



Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases.

Cancers
Prochazkova, Kristyna K; Ptakova, Nikola N; Alaghehbandan, Reza R; Williamson, Sean R SR; Vaněček, Tomáš T; Vodicka, Josef J; Treska, Vladislav V; Rogala, Joanna J; Pivovarcikova, Kristyna K; Michalova, Kvetoslava K; Slisarenko, Maryna M; Hora, Milan M; Michal, Michal M; Hes, Ondrej O
Publication Date: 2021-11-24

Variant appearance in text: PTEN: 492+1del
PubMed Link: 34885018
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases.

Cancers
Prochazkova, Kristyna K; Ptakova, Nikola N; Alaghehbandan, Reza R; Williamson, Sean R SR; Vaněček, Tomáš T; Vodicka, Josef J; Treska, Vladislav V; Rogala, Joanna J; Pivovarcikova, Kristyna K; Michalova, Kvetoslava K; Slisarenko, Maryna M; Hora, Milan M; Michal, Michal M; Hes, Ondrej O
Publication Date: 2021-11-24

Variant appearance in text: PTEN: 492+1del
PubMed Link: 34885018
Variant Present in the following documents:
  • Main text
View BVdb publication page