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Article

DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.

Pediatric nephrology (Berlin, Germany) - 1 Jun 2014

Savige Judy, Ars Elisabet, Cotton Richard G H, Crockett David, Dagher Hayat, Deltas Constantinos, Ding Jie, Flinter Frances, Pont-Kingdon Genevieve, Smaoui Nizar, Torra Roser, Storey Helen

Abstract excerpt

X-linked Alport syndrome is a form of progressive renal failure caused by pathogenic variants in the COL4A5 gene. More than 700 variants have been described and a further 400 are estimated to be known to individual laboratories but are unpublished. The major genetic testing laboratories for X-linked Alport syndrome worldwide have established a Web-based database for published and unpublished COL4A5 variants (...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 23720012
DOI: 10.1007/s00467-013-2486-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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