AF035281 S47Shift - 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:

AF035281 S47Shift

(AF035281 47delSinsShift)


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

  • AAGAG @ chr7:148622426: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.1% (4/128)

Publications
 

Genomes
 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het AGAGA @ chr7:148991490

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het AGAGA @ chr7:148991490

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het AGAGA @ chr7:148991490

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het AGAGA @ chr7:148991490

 

GS07357 - var-GS07357-1100-36-ASM
het AAGAG @ chr7:148622427

 

GS19649 - var-GS19649-1100-36-ASM
het AAGAG @ chr7:148622427

 

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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