Accession PRJCA003181
Title A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease
Relevance Medical
Data types Exome
Organisms Homo sapiens
Description A heterozygous missense variant (c.674C>G; p.T225R) in UMOD was found in in a family with autosomal dominant tubulointerstitial kidney disease
Sample scope Multiisolate
Release date 2020-08-05
Publication
PubMed ID Article title Journal name DOI Year
32847529 A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report BMC Nephrology 10.1186/s12882-020-02022-1 2020
Grants
Agency program Grant ID Grant title
Central South University ZY2013
Submitter dang  xi  qiang  (dangxiqiang@csu.edu.cn)
Organization Central South University
Submission date 2020-08-05

Project Data

Resource name Description
BioSample (4) -
SAMC1400601 autosomal dominant tubulointerstitial kidney disease sample pf patient number 011
SAMC1400598 autosomal dominant tubulointerstitial kidney disease sample pf patient number 004
SAMC1400593 autosomal dominant tubulointerstitial kidney disease sample pf patient number 006
SAMC1400589 autosomal dominant tubulointerstitial kidney disease sample pf patient number 008