COL4A3 R408H - 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.

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Curation:
Currentness:

(See the latest version)

COL4A3 R408H

(COL4A3 Arg408His)


You are viewing an old version of this page that was 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 @ chr2:228128568: 6.3% (607/9608) in EVS
  • A @ chr2:227836811: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 6.3% (607/9608)

Publications
 

Genomes
 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr2:227836812

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr2:227836812

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr2:227836812

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr2:227836812

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr2:227836812

 

Added in this revision:

GS20502 - var-GS20502-1100-36-ASM
het A @ chr2:227836812

 

snp-1

 

snp-5

 

Other external references
 

    dbSNP
  • rs34505188
    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

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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