CREBBP c.145G>C ;(p.G49R)

Variant ID: 16-3900951-C-G

NM_004380.2(CREBBP):c.145G>C;(p.G49R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sadikovic, Bekim B; Levy, Michael A MA; Kerkhof, Jennifer J; Aref-Eshghi, Erfan E; Schenkel, Laila L; Stuart, Alan A; McConkey, Haley H; Henneman, Peter P; Venema, Andrea A; Schwartz, Charles E CE; Stevenson, Roger E RE; Skinner, Steven A SA; DuPont, Barbara R BR; Fletcher, Robin S RS; Balci, Tugce B TB; Siu, Victoria Mok VM; Granadillo, Jorge L JL; Masters, Jennefer J; Kadour, Mike M; Friez, Michael J MJ; van Haelst, Mieke M MM; Mannens, Marcel M A M MMAM; Louie, Raymond J RJ; Lee, Jennifer A JA; Tedder, Matthew L ML; Alders, Marielle M
Publication Date: 2021-06

Variant appearance in text: CREBBP: 145G>C
PubMed Link: 33547396
Variant Present in the following documents:
  • 41436_2020_1096_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page