TCOF1 P1139R - 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:

TCOF1 P1139R

(TCOF1 Pro1139Arg)


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 @ chr5:149772280: 17.0% (1834/10758) in EVS
  • Frequency shown in summary reports: 17.0% (1834/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr5:149772280

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom G @ chr5:149772280

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom G @ chr5:149772280

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr5:149772280

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr5:149772280

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het G @ chr5:149772280

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr5:149772280

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr5:149772280

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr5:149772280

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr5:149772280

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr5:149772280

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr5:149772280

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr5:149772280

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr5:149772280

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom G @ chr5:149772280

 

Other external references
 

    dbSNP
  • rs1136103
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (2 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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