RPGR G566E - 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:

RPGR G566E

(RPGR Gly566Glu)


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 @ chrX:38147170: 9.0% (790/8759) in EVS
  • T @ chrX:38032113: 6.5% (6/92) in GET-Evidence
  • Frequency shown in summary reports: 9.0% (790/8759)

Publications
 

Genomes
 

 

GS19017 - var-GS19017-1100-36-ASM
hom T @ chrX:38032114

 

GS19026 - var-GS19026-1100-36-ASM
hom T @ chrX:38032114

 

GS19670 - var-GS19670-1100-36-ASM
hom T @ chrX:38032114

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chrX:38032114

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chrX:38032114

 

Other external references
 

    dbSNP
  • rs1801688
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the RPGR gene
    Retinitis Pigmentosa, X-Linked
    RPGR-Related Retinitis Pigmentosa
    Leber Congenital Amaurosis
    Retinitis Pigmentosa, Autosomal Dominant
    Cone-Rod Dystrophy, Type 2
    CRX-Related Leber Congenital Amaurosis
    CRX-Related Retinitis Pigmentosa
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RPGR
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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