COL4A4 G999E - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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COL4A4 G999E

(COL4A4 Gly999Glu)


You are viewing an old version of this page that was saved on December 28, 2009 at 11:43am by Abraham Rosenbaum.

Short summary

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.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

dominant

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr2:227915847: 1.0% (98/9708) in EVS
  • Frequency shown in summary reports: 1.0% (98/9708)

Publications
 

Added in this revision:

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.

 

Genomes
 

NA07022

 

snp-5

 

Other external references
 

    GeneTests
  • GeneTests records for the COL4A4 gene
    Collagen IV-Related Nephropathies (Alport Syndrome and Thin Base
    COL4A4 Alport Syndrome and Thin Basement Membrane Nephropathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL4A4
    Web search results (2 hits -- see all)
  • Amplified DNA Nanoarray Sequencing
    Human Genome Sequencing Using Unchained Base Reads on. Self-Assembling DNA Nanoarrays ... COL4A4. G999E. TBMD. G‐>E mutations are often causative in TBMD; possibly pathogenic in a ...
    www.sciencemag.org/cgi/data/1181498/DC1/1
  • Sup.doc
    This process incorporates several DNA engineering innovations to ... COL4A4. G999E. TBMD. G->E mutations are often causative in TBMD; possibly pathogenic in a ...
    arep.med.harvard.edu/pdf/Drmanac_sup_09.doc

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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