HLA-A T323A - 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:

HLA-A T323A

(HLA-A Thr323Ala)


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

  • G @ chr6:29912348: 19.9% (1501/7524) in EVS
  • G @ chr6:30020326: 12.0% (11/92) in GET-Evidence
  • Frequency shown in summary reports: 19.9% (1501/7524)

Publications
 

Genomes
 

hu0D879F

 

hu34D5B9 - hu34D5B9 exome
hom G @ chr6:29912348

 

 

 

huAE6220

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr6:30020327

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr6:30020327

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr6:30020327

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr6:30020327

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr6:30020327

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr6:30020327

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr6:30020327

 

Other external references
 

    dbSNP
  • rs1137078
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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