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Curation:

Currentness:

(See the latest version)

PCDHB3 K41R

(PCDHB3 Lys41Arg)

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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.)

unknown

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)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs31849
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

PolyPhen-2

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 ...
www.genecards.org/cgi-bin/carddisp.pl?gene=PCDHB3
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 ...
ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=PCDHB3
Table 3 Text
... total chromosomes genotyped MAF mean MAF stdev chromosomes genotyped ... criterion prediction score number sequences aligned prediction score divergence ...
icr.ac.uk/research/research_sections/.../2842.txt
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 ...
www.uniprot.org/uniprot/Q9Y5E6
56132
The Arabidopsis Thaliana Transcription Factors Database,Genomic Transcription Factors Information about Arabidopsis thaliana
okcam.cbi.pku.edu.cn/entry-info.php?id=56132
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. ...
www.genome.jp/dbget-bin/www_bget?uniprot:Q9Y5E6

Other in silico analyses

NBLOSUM100 score = –3
GET-Evidence autoscore = 1

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B05 from PGP sample 86486261 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_F02 from PGP sample 95788191 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000005532 view
Jun 22 2011 Genome Importing Robot removed !Gubi view
Jun 22 2011 Genome Importing Robot added PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) view
Mar 29 2011 Genome Importing Robot added var-GS20509-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19703-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19700-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19649-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18537-1100-36-ASM view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_G01_200_37 view
Feb 27 2010 Genome Importing Robot added !Gubi view
Feb 27 2010 Genome Importing Robot added variant view

PCDHB3 K41R - GET-Evidence