CREBBP c.5638C>T ;(p.Q1880*)

Variant ID: 16-3779410-G-A

NM_004380.2(CREBBP):c.5638C>T;(p.Q1880*)

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 exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.

Molecular Genetics & Genomic Medicine
Yu, Sha S; Wu, Bingbing B; Qian, Yanyan Y; Zhang, Ping P; Lu, Yulan Y; Dong, Xinran X; Wang, Qing Q; Zhao, Xuemei X; Liu, Renchao R; Zhou, Wenhao W; Wang, Huijun H
Publication Date: 2019-12

Variant appearance in text: CREBBP: 5638C>T
PubMed Link: 31637876
Variant Present in the following documents:
  • Main text
  • MGG3-7-e1009.pdf
View BVdb publication page