NR_027336 V73F - 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:

NR_027336 V73F

(NR_027336 Val73Phe)


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
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr16:90110289

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom A @ chr16:90110289

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom A @ chr16:90110289

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom A @ chr16:90110289

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr16:90110289

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr16:90110289

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr16:90110289

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr16:90110289

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr16:90110289

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom A @ chr16:90110289

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr16:90110289

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr16:90110289

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom A @ chr16:90110289

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom A @ chr16:90110289

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr16:90110289

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom A @ chr16:90110289

 

Other external references
 

    dbSNP
  • rs1048148
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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