Bibliome.ai browser hg19
Search
About
Stats
FAQ
CREBBP c.5651_5652delinsAA ;(p.S1884*)
Variant ID: 16-3779396-AG-TT
NM_004380.2(
CREBBP
):c.5651_5652delinsAA;(p.S1884*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Npj Genomic Medicine
Lassmann, Timo T; Francis, Richard W RW; Weeks, Alexia A; Tang, Dave D; Jamieson, Sarra E SE; Broley, Stephanie S; Dawkins, Hugh J S HJS; Dreyer, Lauren L; Goldblatt, Jack J; Groza, Tudor T; Kamien, Benjamin B; Kiraly-Borri, Cathy C; McKenzie, Fiona F; Murphy, Lesley L; Pachter, Nicholas N; Pathak, Gargi G; Poulton, Cathryn C; Samanek, Amanda A; Skoss, Rachel R; Slee, Jennie J; Townshend, Sharron S; Ward, Michelle M; Baynam, Gareth S GS; Blackwell, Jenefer M JM
Publication Date: 2020-12-10
Variant appearance in text: CREBBP: Ser1884Ter
PubMed Link:
33303739
Variant Present in the following documents:
41525_2020_Article_161.pdf
View BVdb publication page