MICA A47T - 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:

MICA A47T

(MICA Ala47Thr)


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 @ chr6:31378388: 4.2% (135/3234) in EVS
  • CA @ chr6:31486365: 6.3% (8/126) in GET-Evidence
  • Frequency shown in summary reports: 4.2% (135/3234)

Publications
 

Genomes
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het CA @ chr6:31378387

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het CA @ chr6:31378387

 

GS18555 - var-GS18555-1100-36-ASM
het CA @ chr6:31486366

 

GS19700 - var-GS19700-1100-36-ASM
het CA @ chr6:31486366

 

Other external references
 

    dbSNP
  • rs1063631
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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