TMEM132A R278Q - 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:

TMEM132A R278Q

(TMEM132A Arg278Gln)


You are viewing the latest version of this page, saved on November 29, 2012 at 3:32am 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

  • A @ chr11:60696399: 2.9% (307/10746) in EVS
  • A @ chr11:60452974: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 2.9% (307/10746)

Publications
 

Genomes
 

Added in this revision:

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr11:60696399

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr11:60696399

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr11:60696399

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr11:60452975

 

Other external references
 

    dbSNP
  • rs61751216
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.997 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in