GH1 T3A - 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:

GH1 T3A

(GH1 Thr3Ala)


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

  • C @ chr17:61996130: 3.0% (326/10758) in EVS
  • C @ chr17:59349861: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 3.0% (326/10758)

Publications
 

Genomes
 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr17:61996130

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr17:61996130

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr17:61996130

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr17:59349862

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr17:59349862

 

Other external references
 

    dbSNP
  • rs2001345
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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