OTOF F303L - 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:

OTOF F303L

(OTOF Phe303Leu)


Short summary

 

Variant evidence
Computational

PolyPhen-2 reports: Unable to locate protein entry otof in the available version of UniProtKB.

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

  • None available.

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het GA @ chr2:26712599

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het GA @ chr2:26712599

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het GA @ chr2:26712599

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het GA @ chr2:26712599

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het GA @ chr2:26712599

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het GA @ chr2:26712599

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het GA @ chr2:26712599

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het GA @ chr2:26712599

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het GA @ chr2:26712599

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het GA @ chr2:26712599

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het GA @ chr2:26712599

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het GA @ chr2:26712599

 

Other external references
 

    GeneTests
  • GeneTests records for the OTOF gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    OTOF-Related Deafness
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OTOF

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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