CREBBP c.4393G>A ;(p.G1465R)

Variant ID: 16-3788561-C-T

NM_004380.2(CREBBP):c.4393G>A;(p.G1465R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: CREBBP: G1465R
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: CREBBP: 4393G>A; Gly1465Arg
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: CREBBP: 4393G>A; G1465R
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Human Mutation
Aspromonte, Maria C MC; Bellini, Mariagrazia M; Gasparini, Alessandra A; Carraro, Marco M; Bettella, Elisa E; Polli, Roberta R; Cesca, Federica F; Bigoni, Stefania S; Boni, Stefania S; Carlet, Ombretta O; Negrin, Susanna S; Mammi, Isabella I; Milani, Donatella D; Peron, Angela A; Sartori, Stefano S; Toldo, Irene I; Soli, Fiorenza F; Turolla, Licia L; Stanzial, Franco F; Benedicenti, Francesco F; Marino-Buslje, Cristina C; Tosatto, Silvio C E SCE; Murgia, Alessandra A; Leonardi, Emanuela E
Publication Date: 2019-09

Variant appearance in text: CREBBP: 4393G>A; Gly1465Arg
PubMed Link: 31209962
Variant Present in the following documents:
  • Main text
View BVdb publication page