ABCA4 H423R - 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:

ABCA4 H423R

(ABCA4 His423Arg)


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

  • C @ chr1:94544234: 25.8% (2778/10758) in EVS
  • GC @ chr1:94316820: 22.7% (29/128) in GET-Evidence
  • Frequency shown in summary reports: 25.8% (2778/10758)

Publications
 

Genomes
 

 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr1:94544234

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr1:94544234

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr1:94544234

 

 

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr1:94544234

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr1:94544234

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr1:94544234

 

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr1:94316822

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr1:94316822

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr1:94316822

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr1:94316822

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr1:94316822

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr1:94316822

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr1:94316822

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr1:94316822

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr1:94316822

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr1:94316822

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr1:94316822

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr1:94316822

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr1:94316822

 

Other external references
 

    dbSNP
  • rs3112831
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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 (benign)
    Web search results (17 hits -- see all)
  • 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
  • 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
  • Retina International's Scientific Newsletter - ABCR Mutations
    (ABCR, ABCA4) Here we report a collection of currently published ABCR/ABCA4 mutations. ... At least it appears that ABCR/ABCA4 is a factor involved in AMD. ...
    www.retina-international.com/sci-news/abcrmut.htm
  • 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
  • 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
  • v13a174-yzer.hsm
    Mutations in the \i{ABCA4} gene have been shown to cause most cases ... the different diseases associated with \i{ABCA4} mutations has led to a genotype ...
    www.molvis.org/molvis/v13/v13a174-yzer.hsm
  • 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
  • Method Evolved for Recognition and Testing of Age Related ...
    Patent title: Method Evolved for Recognition and Testing of Age Related Macular ... Methods for predicting an individual's genetic risk for developing ARMD is ...
    www.faqs.org/patents/app/20080255000
  • Novel mutations in the <i>ABCA4 </i>gene in French-Canadian ...
    Novel mutations in the ABCA4 gene in French-Canadian patients affected by Stargardt disease. ... The other 6 AA changes, R212H, H423R, L1250P, A1773E, N1861I and S2255I, have ...
    www.ashg.org/2009meeting/abstracts/fulltext/f10950.htm

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in