HRA000269
Title:
A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease
Release date:
2020-08-13
Description:
A heterozygous missense mutation (c.674C>G; p.T225R) in UMOD was found in a family with autosomal dominant tubulointerstitial kidney disease
Data Accessibility:   
Controlled access Request Data
BioProject:
Study type:
Disease Study
Disease name:
kidney disease
Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.


DAC NO.:
DAC name:
CAS_XYEYY
Contact person:
Qiang Xi Dang
Email:
dangxiqiang@csu.edu.cn
Description:
Hereditary kidney disease
Individuals & samples
Submitter:   qiang xi dang / dangxiqiang@csu.edu.cn
Organization:   Central South University
Submission date:   2020-08-05
Requests:   -