CREBBP c.4482dup ;(p.K1495Qfs*24)

Variant ID: 16-3786728-T-TG

NM_004380.2(CREBBP):c.4482dup;(p.K1495Qfs*24)

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:

Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.

Molecular Genetics & Genomic Medicine
Choi, Naye N; Kim, Hwa Young HY; Lim, Byung Chan BC; Chae, Jong-Hee JH; Kim, Soo Yeon SY; Ko, Jung Min JM
Publication Date: 2021-10

Variant appearance in text: CREBBP: 4482dup
PubMed Link: 34427995
Variant Present in the following documents:
  • MGG3-9-e1791.pdf
View BVdb publication page


Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.

Molecular Genetics & Genomic Medicine
Choi, Naye N; Kim, Hwa Young HY; Lim, Byung Chan BC; Chae, Jong-Hee JH; Kim, Soo Yeon SY; Ko, Jung Min JM
Publication Date: 2021-10

Variant appearance in text: CREBBP: 4482dup
PubMed Link: 34427995
Variant Present in the following documents:
  • MGG3-9-e1791.pdf
View BVdb publication page