Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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You are viewing an old version of this page that was saved on January 5, 2010 at 3:00pm by Abraham Rosenbaum.
This variant is causative for Benign Familial Hematuria (thin membrane basement disease). While this variant is benign, it is useful in differentiating glomerular hematuria from Alport Syndrome.
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Buzza M, Dagher H, Wang YY, Wilson D, Babon JJ, Cotton RG, Savige J. Mutations
in the COL4A4 gene in thin basement membrane disease. Kidney Int. 2003
Feb;63(2):447-53. PubMed PMID: 12631110.
Added in this revision:
Wang YY, Rana K, Tonna S, Lin T, Sin L, Savige J. COL4A3 mutations and their
clinical consequences in thin basement membrane nephropathy (TBMN). Kidney Int.
2004 Mar;65(3):786-90. PubMed PMID: 14871398.