CHD7 Database

The CHD7 database contains locus-specific, anonymised mutation data on both published and unpublished variants of the CHD7 gene related to the CHARGE syndrome phenotype. It can be searched for patients and their clinical phenotype or for mutations. It can be used as a central, quick reference database for anyone who encounters a variant in the CHD7 gene. Mutations are numbered according to the current reference sequence (GenBank Accession no. NM017780.2).

CHD7数据库收录了与CHARGE综合征（CHARGE syndrome）表型相关的CHD7基因的已发表及未发表变异的位点特异性匿名化突变数据。该数据库支持针对患者及其临床表型，或针对突变开展检索。其可作为面向所有偶遇CHD7基因变异人员的中心化快速参考数据库。所有突变均依据当前参考序列（GenBank登录号NM017780.2）进行编号。

搜集汇总

背景与挑战

背景概述

该数据集是一个开放访问的CHD7基因突变数据库，收录了已发表和未发表的CHD7基因变异及相关表型数据，并定期更新。目前包含554个致病性突变、93个未分类变异和102个良性变异，涉及895名患者，支持通过突变或临床表型进行检索。