BCHE A567T - 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:

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BCHE A567T

(BCHE Ala567Thr)


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 @ chr3:165491280: 19.8% (2132/10754) in EVS
  • T @ chr3:166973973: 22.5% (27/120) in GET-Evidence
  • Frequency shown in summary reports: 19.8% (2132/10754)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr3:165491280

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr3:165491280

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr3:165491280

 

GS06994 - var-GS06994-1100-36-ASM
hom T @ chr3:166973974

 

GS10851 - var-GS10851-1100-36-ASM
hom T @ chr3:166973974

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr3:166973974

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr3:166973974

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr3:166973974

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr3:166973974

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr3:166973974

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr3:166973974

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr3:166973974

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr3:166973974

 

GS19649 - var-GS19649-1100-36-ASM
hom T @ chr3:166973974

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr3:166973974

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr3:166973974

 

Added in this revision:

GS19703 - var-GS19703-1100-36-ASM
het T @ chr3:166973974

 

NA12156

 

NA12878

 

NA18956

 

snp-1

 

snp-2

 

snp-27

 

snp-28

 

snp-30

 

Other external references
 

    dbSNP
  • rs1803274
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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