TULP1 P143A - 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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TULP1 P143A

(TULP1 Pro143Ala)


You are viewing an old version of this page that was saved on March 29, 2011 at 4:58pm by Genome Importing Robot.

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 @ chr6:35478710: 0.1% (7/10758) in EVS
  • C @ chr6:35586687: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (7/10758)

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the TULP1 gene
    Leber Congenital Amaurosis
    Retinitis Pigmentosa, Autosomal Recessive
    TULP1-Related Leber Congenital Amaurosis
    TULP1-Related Retinitis Pigmentosa
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TULP1
    PolyPhen-2
  • Score: 0.947 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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