GJC2 Y272D - 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:

GJC2 Y272D

(GJC2 Tyr272Asp)


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

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.996 (probably damaging)
    Web search results (1 hit -- see all)
  • OMIM: 608803
    0002 LEUKODYSTROPHY, HYPOMYELINATING, 2 GJC2, PRO90SER In a nonconsanguineous German ... by aspartic acid (Y272D). . 0005 LEUKODYSTROPHY, HYPOMYELINATING, 2 GJC2, TYR272ASP ...
    www.genome.jp/dbget-bin/www_bget?omim+608803

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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