CREBBP c.1715del ;(p.G572Efs*17)

Variant ID: 16-3830840-TC-T

NM_004380.2(CREBBP):c.1715del;(p.G572Efs*17)

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:

Cornelia de Lange Syndrome as Paradigm of Chromatinopathies.

Frontiers In Neuroscience
Parenti, Ilaria I; Kaiser, Frank J FJ
Publication Date: 2021

Variant appearance in text: CREBBP: 1715delG
PubMed Link: 34803598
Variant Present in the following documents:
  • Main text
  • fnins-15-774950.pdf
View BVdb publication page