ABCA4 N1868I - GET-Evidence

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

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ABCA4 N1868I

(ABCA4 Asn1868Ile)


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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 @ chr1:94476467: 4.7% (506/10758) in EVS
  • A @ chr1:94249054: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 4.7% (506/10758)

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the ABCA4 gene
    Age-related macular degeneration
    ABCA4-Related Retinitis Pigmentosa
    ABCA4-Related Stargardt Disease 1
    Age-Related Macular Degeneration 2
    Cone-Rod Dystrophy, Type 3
    Retinitis Pigmentosa, Autosomal Recessive
    Stargardt Disease, Autosomal Recessive
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCA4
    PolyPhen-2
  • Score: 0.77 (possibly damaging)
    Web search results (15 hits -- see all)
  • A Comprehensive Survey of Sequence Variation in the ABCA4 ...
    (ABCA4). We have studied 144 patients with STGD and 220 unaffected individuals ascertained ... the proposed role for ABCA4 in age-related macular degeneration ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Retina International's Scientific Newsletter - ABCR Mutations
    Here we report a collection of currently published ABCR/ABCA4 mutations. ... ABCA4 mutations in AMD is still under heavy dispute. At least it appears that ABCR/ABCA4 ...
    www.retina-international.com/sci-news/abcrmut.htm
  • Denaturing HPLC Profiling of the ABCA4 Gene for Reliable ...
    scanning of the ABCA4 gene cumbersome, we describes. here the first use of denaturing HPLC ... ABCA4 gene to assess the sensitivity and the efficiency of ...
    www.clinchem.org/cgi/reprint/clinchem.2004.033241v1.pdf
  • Yzer, Mol Vis 2007; 13:1568-1572.
    Conclusions: Two new ABCA4 mutations were identified in a family with ... ABCA4 is a member of the ATP-binding cassette (ABC) transporter gene superfamily ...
    www.molvis.org/molvis/v13/a174
  • Rosenberg, Mol Vis 2007; 13:1962-1969.
    N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish ... ABCA4 encodes a retinal specific ATP-binding transporter protein located at the ...
    www.molvis.org/molvis/v13/a221
  • Gendia | Microarray Testing
    gendia is an international network consisting of more than 100 laboratories. Gendia currently offers close to 2000 genetic tests.
    www.gendia.net/t18_note1.html
  • Arch Ophthalmol -- Stargardt Disease in a Patient With ...
    Archives of Ophthalmology, a monthly professional medical journal published by the American Medical Association, publishes peer-reviewed, original articles on all ...
    archopht.ama-assn.org/cgi/content/full/121/11/1643
  • Denaturing HPLC Profiling of the ABCA4 Gene for Reliable ...
    Genotypes of previously obtained control samples containing mutated DNA. ... N1868I (5603A>T) (13) R572Q (1715G>A) (17) L1894L (5682G>C) (15) 13 ...
    www.clinchem.org/cgi/content/full/50/8/1336/T1

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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