COL4A3 K834R - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

COL4A3 K834R

(COL4A3 Lys834Arg)


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

  • G @ chr2:228147093: 1.1% (100/9486) in EVS
  • G @ chr2:227855336: 2.4% (3/126) in GET-Evidence
  • Frequency shown in summary reports: 1.1% (100/9486)

Publications
 

Genomes
 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr2:227855337

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr2:227855337

 

Other external references
 

    dbSNP
  • rs56226424
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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