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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

PCDH11Y N1012K

(PCDH11Y Asn1012Lys)


You are viewing the latest version of this page, saved on November 29, 2012 at 7:39am by Genome Importing Robot.

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
 

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom G @ chrY:4968655

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chrY:4968655

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom G @ chrY:4968655

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom G @ chrY:4968655

 

 

 

Added in this revision:

 

GS06994 - var-GS06994-1100-36-ASM
hom G @ chrY:5028655

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chrY:5028655

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chrY:5028655

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chrY:5028655

 

GS18940 - var-GS18940-1100-36-ASM
hom G @ chrY:5028655

 

GS19020 - var-GS19020-1100-36-ASM
hom G @ chrY:5028655

 

GS19025 - var-GS19025-1100-36-ASM
hom G @ chrY:5028655

 

GS19026 - var-GS19026-1100-36-ASM
hom G @ chrY:5028655

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chrY:5028655

 

GS19670 - var-GS19670-1100-36-ASM
hom G @ chrY:5028655

 

GS19700 - var-GS19700-1100-36-ASM
hom G @ chrY:5028655

 

GS19703 - var-GS19703-1100-36-ASM
hom G @ chrY:5028655

 

GS19735 - var-GS19735-1100-36-ASM
hom G @ chrY:5028655

 

GS19834 - var-GS19834-1100-36-ASM
hom G @ chrY:5028655

 

Other external references
 

    dbSNP
  • rs2563389
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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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