CREBBP c.4729-14G>A

Variant ID: 16-3781952-C-T

NM_004380.2(CREBBP):c.4729-14G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget
Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S
Publication Date: 2014-11-15

Variant appearance in text: rs130008
PubMed Link: 25347344
Variant Present in the following documents:
  • oncotarget-05-10596-s002.xlsx, sheet 4
View BVdb publication page



Gender-stratified gene and gene-treatment interactions in smoking cessation.

The Pharmacogenomics Journal
Lee, W W; Bergen, A W AW; Swan, G E GE; Li, D D; Liu, J J; Thomas, P P; Tyndale, R F RF; Benowitz, N L NL; Lerman, C C; Conti, D V DV
Publication Date: 2012-12

Variant appearance in text: rs130008
PubMed Link: 21808284
Variant Present in the following documents:
  • NIHMS305090-supplement-3.pdf
View BVdb publication page



Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study.

Bmc Medical Genetics
Lu, Wei W; Guzman, Adrian R AR; Yang, Wei W; Chapa, Claudia J CJ; Shaw, Gary M GM; Greene, Robert M RM; Pisano, M Michele MM; Lammer, Edward J EJ; Finnell, Richard H RH; Zhu, Huiping H
Publication Date: 2010-10-08

Variant appearance in text: rs130008
PubMed Link: 20932315
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-141.pdf
View BVdb publication page



Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.

American Journal Of Human Genetics
Barnby, Gabrielle G; Abbott, Aaron A; Sykes, Nuala N; Morris, Andrew A; Weeks, Daniel E DE; Mott, Richard R; Lamb, Janine J; Bailey, Anthony J AJ; Monaco, Anthony P AP; ,
Publication Date: 2005-06

Variant appearance in text: rs130008
PubMed Link: 15830322
Variant Present in the following documents:
  • Main text
View BVdb publication page