GRM6 I405T - 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:

GRM6 I405T

(GRM6 Ile405Thr)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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

  • G @ chr5:178416076: 0.0% (2/10756) in EVS
  • Frequency shown in summary reports: 0.0% (2/10756)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.924 (probably damaging)
    Web search results (3 hits -- see all)
  • CSNBgenetest
    Ophthalmogenetic testing for retinal disorders - autosomal dominant optic atrophy (OPA1 gene)
    www.asperophthalmics.com/CSNBgenetest.htm
  • Congenital Stationary Night Blindness test
    acid change I405T. DNA from customer. DNA. fragmentation. PCR. Data to ... 4. Mutations in GRM6 cause autosomal recessive congenital stationary night ...
    www.asperophthalmics.com/CSNBchip.pdf
  • OMIM: 604096
    ... in the GRM6 gene, resulting in an ile405-to-thr (I405T) substitution in the extracellular ... expression studies showed that the I405T substitution resulted in impaired protein ...
    www.genome.jp/dbget-bin/www_bget?mim:604096

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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