PCDHB16 T482I - 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)

PCDHB16 T482I

(PCDHB16 Thr482Ile)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm 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
 

 

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

 

Added in this revision:

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

 

snp-1

 

snp-3

 

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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