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.

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

Curation:
Currentness:

COL4A3 R408H

(COL4A3 Arg408His)


You are viewing the latest version of this page, saved on November 29, 2012 at 7:01am 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
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr2:228128568

 

Added in this revision:

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr2:228128568

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr2:228128568

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom A @ chr2:228128568

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr2:228128568

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr2:228128568

 

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

 

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

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr2:227836812

 

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":

Log in