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CREBBP c.3380del ;(p.D1127Afs*3)
Variant ID: 16-3808039-GT-G
NM_004380.2(
CREBBP
):c.3380del;(p.D1127Afs*3)
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:
Whole-Exome Sequencing for Identifying Genetic Causes of Intellectual Developmental Disorders.
International Journal Of General Medicine
Guo, Yu-Xiong YX; Ma, Hong-Xia HX; Zhang, Yu-Xin YX; Chen, Zhi-Hong ZH; Zhai, Qiong-Xiang QX
Publication Date: 2021
Variant appearance in text: CREBBP: 3380delA
PubMed Link:
33880059
Variant Present in the following documents:
Main text
View BVdb publication page