CREBBP c.3015dup ;(p.T1006Hfs*2)

Variant ID: 16-3819219-T-TG

NM_004380.2(CREBBP):c.3015dup;(p.T1006Hfs*2)

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: 3014_3015insC
PubMed Link: 26788536
Variant Present in the following documents:
  • Main text
  • MGG3-4-039.pdf
View BVdb publication page