NR_024334 G98S - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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NR_024334 G98S

(NR_024334 Gly98Ser)


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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
hom T @ chr14:65878807

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom T @ chr14:65878807

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het T @ chr14:65878807

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr14:65878807

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom T @ chr14:65878807

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr14:65878807

 

Added in this revision:

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom T @ chr14:65878807

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom T @ chr14:65878807

 

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr14:65878807

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr14:65878807

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom T @ chr14:65878807

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom T @ chr14:65878807

 

Other external references
 

    dbSNP
  • rs1953416
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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