CREBBP c.3609G>C ;(p.K1203N)

Variant ID: 16-3807810-C-G

NM_004380.2(CREBBP):c.3609G>C;(p.K1203N)

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:

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.

African Health Sciences
Elalaoui, Siham Chafai SC; Smaili, Wiam W; Van-Gils, Julien J; Fergelot, Patricia P; Ratbi, Ilham I; Tajir, Mariam M; Arveiler, Benoit B; Lacombe, Didier D; Sefiani, Abdelaziz A
Publication Date: 2021-06

Variant appearance in text: CREBBP: 3609G>C
PubMed Link: 34795756
Variant Present in the following documents:
  • Main text
  • AFHS2102-0960.pdf
View BVdb publication page