AK094748 D110A - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

AK094748 D110A

(AK094748 Asp110Ala)


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 @ chr19:63205618: 4.9% (4/82) in GET-Evidence
  • Frequency shown in summary reports: 4.9% (4/82)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr19:58513807

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr19:58513807

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr19:58513807

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr19:58513807

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr19:58513807

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr19:58513807

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr19:58513807

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr19:58513807

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr19:63205619

 

Other external references
 

    dbSNP
  • rs4801243
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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