COL4A3 M1209I - GET-Evidence

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

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Curation:
Currentness:

COL4A3 M1209I

(COL4A3 Met1209Ile)


You are viewing the latest version of this page, saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

Short summary

 

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

Impact

Insufficiently evaluated not reviewed

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr2:228162451: 0.0% (1/9626) in EVS
  • A @ chr2:227870694: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.0% (1/9626)

Publications
 

Genomes
 

Added in this revision:

GS18537 - var-GS18537-1100-36-ASM
het A @ chr2:227870695

 

Other external references
 

    GeneTests
  • GeneTests records for the COL4A3 gene
    Collagen IV-Related Nephropathies (Alport Syndrome and Thin Base
    COL4A3 Alport Syndrome and Thin Basement Membrane Nephropathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL4A3
    PolyPhen-2
  • Score: 0.981 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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