COL4A3 H451R - 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:

COL4A3 H451R

(COL4A3 His451Arg)


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 @ chr2:228131169: 7.4% (706/9576) in EVS
  • G @ chr2:227839412: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 7.4% (706/9576)

Publications
 

Genomes
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr2:228131169

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr2:228131169

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr2:228131169

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom G @ chr2:228131169

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr2:228131169

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr2:228131169

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr2:227839413

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr2:227839413

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr2:227839413

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr2:227839413

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr2:227839413

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr2:227839413

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr2:227839413

 

Other external references
 

    dbSNP
  • rs11677877
    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 (27 hits -- see all)
  • Polymorphisms in the type IV collagen {alpha}3 gene and the ...
    COL4A3, which is one of six genetically distinct homologous -chains ... The COL4A3 H451R polymorphism interacted with tobacco smoking in determining the risk of ...
    erj.ersjournals.com/cgi/content/full/32/1/35
  • MedWire News - Respiratory - Genetic contributor to COPD risk ...
    Predicting that COL4A3 may act as a low-penetrance susceptibility ... P1RIL, G162E, H451R, P574L, and *315C>A polymorphisms in COL4A3 were genotyped in 311 ...
    medwire-news.md/48/74088/Respiratory/...
  • Polymorphisms in the type IV collagen {alpha}3 gene and the ...
    To test this hypothesis, the association of COL4A3 -1162T>C, IVS2+12C>A, P141L, G162E, H451R, P574L and *315C>A polymorphisms with the risk of ...
    erj.ersjournals.com/cgi/content/abstract/32/1/35
  • Molecular Vision: Polymorphisms in COL4A3 and COL4A4 genes ...
    Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus ... COL4A3, six of them amino substitutions (G43R, P141L, E162G, D326Y, H451R, and ...
    www.molvis.org/molvis/v15/a301
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Annals of Pulmonary Medicine
    The type IV collagen alpha3 (COL4A3) gene appears to contribute to the genetic susceptibility for developing ... G162E, H451R, P574L, and *315C>A polymorphisms in COL4A3 were ...
    english.analesdemedicina.com/neumonologia/noticia.php?...
  • Molecular Vision: Štabuc-Šilih, Mol Vis 2009; 15:2848-2860 ...
    ... 4. Allele frequencies and their significances in COL4A3 and COL4A4 polymorphisms between ... H451R. 1352A. 193. 292. 1352G. 15. 22. 1.0000. G484G. 1452G. 199. 298. 1452A. 9. 16 ...
    www.molvis.org/molvis/v15/a301/stabuc-silih-table4.html
  • Breathing Better Living Well Community [Powered by Invision ...
    The type IV collagen alpha3 (COL4A3) gene appears to contribute to the genetic susceptibility for developing ... G162E, H451R, P574L, and *315C>A polymorphisms in COL4A3 were ...
    breathingbetterlivingwell.com/community/index.php?...&t=4911
  • Unbound MEDLINE | Polymorphisms in the Type IV Collagen ...
    Unbound MEDLINE | Polymorphisms in the Type IV Collagen Alpha3 Gene and the Risk of COPD. Journal article abstract. Search by keyword, journal, author or by EBM ...
    unboundmedicine.com/medline/ebm/record/18385178/abstract/...
  • Unbound MEDLINE | Polymorphisms in the Type IV Collagen ...
    Unbound MEDLINE | Polymorphisms in the Type IV Collagen Alpha3 Gene and the Risk of COPD. Journal article. Search by keyword, journal, author or by EBM filters ...
    unboundmedicine.com/medline/ebm/record/18385178/...

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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