CREBBP c.6043del ;(p.S2015Afs*25)

Variant ID: 16-3779005-CT-C

NM_004380.2(CREBBP):c.6043del;(p.S2015Afs*25)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.

International Journal Of Molecular Sciences
Yoo, Hee Jeong HJ; Kim, Kyung K; Kim, In Hyang IH; Rho, Seong-Hwan SH; Park, Jong-Eun JE; Lee, Ki Young KY; Kim, Soon Ae SA; Choi, Byung Yoon BY; Kim, Namshin N
Publication Date: 2015-03-11

Variant appearance in text: CREBBP: 6043delA; Ser2015fs
PubMed Link: 25768348
Variant Present in the following documents:
  • ijms-16-05697-s001.pdf
View BVdb publication page



Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Bmc Medical Genetics
Bentivegna, Angela A; Milani, Donatella D; Gervasini, Cristina C; Castronovo, Paola P; Mottadelli, Federica F; Manzini, Stefano S; Colapietro, Patrizia P; Giordano, Lucio L; Atzeri, Francesca F; Divizia, Maria T MT; Uzielli, Maria L Giovannucci ML; Neri, Giovanni G; Bedeschi, Maria F MF; Faravelli, Francesca F; Selicorni, Angelo A; Larizza, Lidia L
Publication Date: 2006-10-19

Variant appearance in text: CREBBP: 6043delA
PubMed Link: 17052327
Variant Present in the following documents:
  • Main text
  • 1471-2350-7-77.pdf
View BVdb publication page