AY819761 T58P - 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:

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AY819761 T58P

(AY819761 Thr58Pro)


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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

  • None available.

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr1:202155543

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom C @ chr1:202155543

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr1:202155543

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom C @ chr1:202155543

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr1:202155543

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
hom C @ chr1:202155543

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom C @ chr1:202155543

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr1:202155543

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom C @ chr1:202155543

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr1:202155543

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom C @ chr1:202155543

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom C @ chr1:202155543

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom C @ chr1:202155543

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom C @ chr1:202155543

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom C @ chr1:202155543

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr1:202155543

 

Added in this revision:

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr1:202155543

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom C @ chr1:202155543

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom C @ chr1:202155543

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom C @ chr1:202155543

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr1:202155543

 

Other external references
 

    dbSNP
  • rs2993432
    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":

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