AF035281 S47Shift - GET-Evidence

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

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AF035281 S47Shift

(AF035281 47delSinsShift)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)




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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