PCDHB3 K41R - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(PCDHB3 Lys41Arg)

You are viewing an old version of this page that was saved on February 27, 2010 at 4:37am by Genome Importing Robot.

Added in this revision:

Short summary


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


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • G @ chr5:140480355: 9.2% (994/10758) in EVS
  • G @ chr5:140460538: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 9.2% (994/10758)



Other external references

  • Score: 0 (benign)
    Web search results (7 hits -- see all)
  • PCDHB3 Gene - GeneCards | PCDB3 Protein | PCDB3 Antibody
    EntrezGene summary for PCDHB3: This gene is a member of the protocadherin beta gene ... PCDHB3 Gene in genomic location: bands according to Ensembl, locations according to (and ...
  • AceView: Gene:PCDHB3, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
  • Table 3 Text
    ... total chromosomes genotyped MAF mean MAF stdev chromosomes genotyped ... criterion prediction score number sequences aligned prediction score divergence ...
  • Protocadherin beta-3 precursor - Homo sapiens (Human)
    PCDHB3. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic identifier. 9606 [NCBI] ... K R: dbSNP rs31849. VAR_024391. Natural variant. 207. 1. E K: dbSNP ...
  • 56132
    The Arabidopsis Thaliana Transcription Factors Database,Genomic Transcription Factors Information about Arabidopsis thaliana
  • UniProt: Q9Y5E6
    DT 01-NOV-1999, sequence version 1. DT 20-APR-2010, entry version 82. DE RecName: ... GC05P140460; -. DR H-InvDB; HIX0032374; -. DR HGNC; HGNC:8688; PCDHB3. ...

Other in silico analyses

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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