HPS4 Q181X - GET-Evidence

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

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HPS4 Q181X

(HPS4 Gln181Stop)

Short summary


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


Insufficiently evaluated pathogenic

(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

  • None available.



Other external references

    Web search results (4 hits -- see all)
  • HPS4
    HPS4 may be involved in the biogenesis of early melanosomes and the ... Suzuki, et al revealed that HPS4 and HPS1 proteins function in the same pathway ...
  • Mendelian Inheritance in Man Document Reader
    These results suggested that the HPS4 and HPS1 proteins function in the same pathway of organelle biogenesis. ... to-ter (Q181X, CAG-TAG) nonsense mutation in the HPS4 gene in ...
  • letter
    These results suggest that the HPS4 and HPS1 proteins may. function in ... 2 Alignment of the mouse HPS4 polypeptide sequence with homologous segments ...

Other in silico analyses

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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