HLA-H G109S - 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:

HLA-H G109S

(HLA-H Gly109Ser)


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 @ chr6:29964308: 20.8% (20/96) in GET-Evidence
  • Frequency shown in summary reports: 20.8% (20/96)

Publications
 

Genomes
 

 

 

hu43860C

 

 

hu604D39

 

 

hu9385BA

 

huAE6220

 

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr6:29964309

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr6:29964309

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr6:29964309

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr6:29964309

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr6:29964309

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr6:29964309

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr6:29964309

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr6:29964309

 

Other external references
 

    dbSNP
  • rs2428512
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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