PHLDA3 R28Q - 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.

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(PHLDA3 Arg28Gln)

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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

  • T @ chr1:201437832: 3.8% (406/10670) in EVS
  • Frequency shown in summary reports: 3.8% (406/10670)



Added in this revision:

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr1:201437832


Other external references

  • rs35383942
  • Score: 0.852 (probably damaging)
    Web search results (2 hits -- see all)
  • Pleckstrin homology-like domain family A member 3 - Homo ...
    p53/TP53 phosphorylation on 'Ser-15' is required to activate the PHLDA3 promoter. ... PHLDA3 genomic locus is frequently observed in primary lung cancers, suggesting ...
  • UniProt: Q9Y5J5
    CC -!- MISCELLANEOUS: PHLDA3 genomic locus is frequently observed in CC primary lung ... SIMILARITY: Belongs to the PHLDA3 family. CC -!- SIMILARITY: Contains ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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