OTOA F15Y - 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:

OTOA F15Y

(OTOA Phe15Tyr)


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 @ chr16:21689879: 3.6% (386/10758) in EVS
  • A @ chr16:21597379: 11.7% (15/128) in GET-Evidence
  • Frequency shown in summary reports: 3.6% (386/10758)

Publications
 

Genomes
 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr16:21689879

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr16:21689879

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr16:21689879

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr16:21689879

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr16:21597380

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr16:21597380

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr16:21597380

 

GS18940 - var-GS18940-1100-36-ASM
hom A @ chr16:21597380

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr16:21597380

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr16:21597380

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr16:21597380

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr16:21597380

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr16:21597380

 

Other external references
 

    dbSNP
  • rs78970023
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in