PCDH11Y N1012K - 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:

(See the latest version)

PCDH11Y N1012K

(PCDH11Y Asn1012Lys)


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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

  • None available.

Publications
 

Genomes
 

Added in this revision:

NA07022

 

Other external references
 

    PolyPhen-2
  • Score: 0 (benign)
    Web search results (2 hits -- see all)
  • Type II- 97%
    ... RSK (0.525) AIMAH, pituitary tumor and polyostotic fibrous dysplasia 9267696 ... (dbSNP:rs9666607) 1281868 PCDH11Y Q9BZA8 N1012K 1009 VAR_026021 gCK1 (0.573) ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_97.txt

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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