AIPL1 T47R - GET-Evidence

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

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Curation:
Currentness:

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AIPL1 T47R

(AIPL1 Thr47Arg)


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Added in this revision:

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 @ chr17:6337375: 0.3% (36/10758) in EVS
  • C @ chr17:6278098: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.3% (36/10758)

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the AIPL1 gene
    Leber Congenital Amaurosis
    AIPL1-Related Leber Congenital Amaurosis
    AIPL1-Related Retinitis Pigmentosa
    Retinitis Pigmentosa, Autosomal Dominant
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AIPL1
    PolyPhen-2
  • Score: 0.983 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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