CREBBP c.5155C>G ;(p.H1719D)

Variant ID: 16-3781210-G-C

NM_004380.2(CREBBP):c.5155C>G;(p.H1719D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 5155C>G; H1719D
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

American Journal Of Medical Genetics. Part A
Musante, Luciana L; Faletra, Flavio F; Meier, Kolja K; Tomoum, Hoda H; Najarzadeh Torbati, Paria P; Blair, Edward E; North, Sally S; Gärtner, Jutta J; Diegmann, Susann S; Beiraghi Toosi, Mehran M; Ashrafzadeh, Farah F; Ghayoor Karimiani, Ehsan E; Murphy, David D; Murru, Flora Maria FM; Zanus, Caterina C; Magnolato, Andrea A; La Bianca, Martina M; Feresin, Agnese A; Girotto, Giorgia G; Gasparini, Paolo P; Costa, Paola P; Carrozzi, Marco M
Publication Date: 2022-09

Variant appearance in text: CREBBP: 5155C>G; His1719Asp
PubMed Link: 35670379
Variant Present in the following documents:
  • AJMG-188-2652-s001.xlsx, sheet 3
View BVdb publication page



Menke-Hennekam Syndrome: A Literature Review and a New Case Report.

Children (Basel, Switzerland)
Sima, Aurora A; Smădeanu, Roxana Elena RE; Simionescu, Anca Angela AA; Nedelea, Florina F; Vlad, Andreea-Maria AM; Becheanu, Cristina C
Publication Date: 2022-05-22

Variant appearance in text: CREBBP: 5155C>G; His1719Asp
PubMed Link: 35626936
Variant Present in the following documents:
  • children-09-00759.pdf
View BVdb publication page