HSPH1 N131Shift - GET-Evidence

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

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HSPH1 N131Shift

(HSPH1 131delNinsShift)

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

  • - @ chr13:30626809: 1.8% (2/114) in GET-Evidence
  • Frequency shown in summary reports: 1.8% (2/114)



GS19648 - var-GS19648-1100-36-ASM
het - @ chr13:30626810


GS19704 - var-GS19704-1100-36-ASM
het - @ chr13:30626810


Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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