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:

BCHE A567T

(BCHE Ala567Thr)


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
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr3:165491280

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr3:165491280

 

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

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr3:165491280

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr3:165491280

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr3:165491280

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr3:165491280

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr3:165491280

 

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

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr3:165491280

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr3:165491280

 

 

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

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom T @ chr3:165491280

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr3:165491280

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr3:165491280

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
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

 

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

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr3:166973974

 

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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