UBASH3A L28F - 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:

UBASH3A L28F

(UBASH3A Leu28Phe)


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 @ chr21:43824136: 3.6% (373/10400) in EVS
  • T @ chr21:42697204: 2.5% (3/122) in GET-Evidence
  • Frequency shown in summary reports: 3.6% (373/10400)

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr21:43824136

 

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr21:43824136

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr21:43824136

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr21:43824136

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr21:42697205

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr21:42697205

 

Other external references
 

    dbSNP
  • rs2277800
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.949 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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