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CREBBP c.3452G>A ;(p.W1151*)
Variant ID: 16-3807967-C-T
NM_004380.2(
CREBBP
):c.3452G>A;(p.W1151*)
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:
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.
Molecular Genetics & Genomic Medicine
Wincent, Josephine J; Luthman, Aron A; van Belzen, Martine M; van der Lans, Christian C; Albert, Johanna J; Nordgren, Ann A; Anderlid, Britt-Marie BM
Publication Date: 2016-01
Variant appearance in text: CREBBP: 3452G>A; Trp1151X
PubMed Link:
26788536
Variant Present in the following documents:
Main text
MGG3-4-039.pdf
View BVdb publication page