PCDHB16 T482I - GET-Evidence

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

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Curation:
Currentness:

(See the latest version)

PCDHB16 T482I

(PCDHB16 Thr482Ile)


You are viewing an old version of this page that was saved on November 29, 2012 at 5:34am 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

  • T @ chr5:140563579: 16.0% (1711/10714) in EVS
  • T @ chr5:140543762: 19.4% (21/108) in GET-Evidence
  • Frequency shown in summary reports: 16.0% (1711/10714)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr5:140563579

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr5:140563579

 

hu34D5B9 - hu34D5B9 exome
het T @ chr5:140563579

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr5:140563579

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr5:140563579

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom T @ chr5:140563579

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr5:140563579

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr5:140563579

 

Added in this revision:

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr5:140563579

 

GS06994 - var-GS06994-1100-36-ASM
hom T @ chr5:140543763

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr5:140543763

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr5:140543763

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr5:140543763

 

GS18558 - var-GS18558-1100-36-ASM
hom T @ chr5:140543763

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr5:140543763

 

GS18947 - var-GS18947-1100-36-ASM
hom T @ chr5:140543763

 

GS18956 - var-GS18956-1100-36-ASM
hom T @ chr5:140543763

 

GS19670 - var-GS19670-1100-36-ASM
hom T @ chr5:140543763

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr5:140543763

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr5:140543763

 

Other external references
 

    dbSNP
  • rs61745657
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs17844646
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.002 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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