PHLDA3 R28Q - GET-Evidence

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

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Curation:
Currentness:

PHLDA3 R28Q

(PHLDA3 Arg28Gln)


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

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

Publications
 

Genomes
 

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

 

Other external references
 

    dbSNP
  • rs35383942
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • 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 ...
    www.uniprot.org/uniprot/Q9Y5J5
  • UniProt: Q9Y5J5
    CC -!- MISCELLANEOUS: PHLDA3 genomic locus is frequently observed in CC primary lung ... SIMILARITY: Belongs to the PHLDA3 family. CC -!- SIMILARITY: Contains ...
    www.genome.jp/dbget-bin/www_bget?uniprot+Q9Y5J5

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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