COL4A3 D326Y - 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 D326Y

(COL4A3 Asp326Tyr)


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

  • T @ chr2:228121101: 16.9% (1624/9608) in EVS
  • T @ chr2:227829344: 16.4% (21/128) in GET-Evidence
  • Frequency shown in summary reports: 16.9% (1624/9608)

Publications
 

Stabuc-Silih M, Strazisar M, Ravnik-Glavac M, Hawlina M, Glavac D. Genetics and clinical characteristics of keratoconus. Acta Dermatovenerol Alp Panonica Adriat. 2010;19(2):3-10. PubMed PMID: 20664914.

 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr2:228121101

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr2:228121101

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr2:228121101

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr2:228121101

 

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr2:228121101

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr2:228121101

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr2:228121101

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr2:228121101

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr2:228121101

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr2:228121101

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr2:228121101

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr2:228121101

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr2:228121101

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr2:228121101

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr2:228121101

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr2:227829345

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr2:227829345

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr2:227829345

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr2:227829345

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr2:227829345

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr2:227829345

 

GS19648 - var-GS19648-1100-36-ASM
hom T @ chr2:227829345

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr2:227829345

 

NA12878

 

Other external references
 

    dbSNP
  • rs55703767
    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 = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in