PAH W326X - GET-Evidence

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

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Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

PAH W326X

(PAH Trp326Stop)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (22 hits -- see all)
  • Phenylketonuria mutations in Northern China
    By using PCR/SSCP and DNA sequencing, all exons of PAH gene in the 185 unre ... to PAH deficiency range in severity from classical PKU. through mild ...
    www.bh4.org/pdf/songMGM.pdf
  • FINDbase
    Phenylketonuria. c.692C>T. PAH. Phenylketonuria. c.696A>G. PAH. Phenylketonuria ... p.W326X. PAH. Phenylketonuria. p.Y154H. PAH. Phenylketonuria. p.Y166X. PAH. Phenylketonuria. p. ...
    findbase.org/display-file.php?...&consortium=
  • Phenylalanine hydroxylase (PAH) mutation map
    Eco RI. VNTR. Phenylalanine. hydroxylase (PAH) mutation map. 5'UTR. 3'UTR ... W326X[H4] Y325X. Y325C. Q20X. Q20L. S16P. S16>XfsX1. G10G[H1,4] M1V[H2] M1R ...
    www.pahdb.mcgill.ca/Information/MutationMap/mutationmap.pdf
  • PCR技术在苯酶同尿症诊断中的应用--生物秀
    PAH基因的突变常见的有两种类型即缺失和单碱基置换,在我国人群中,已检测的 PKU均因PAH基因的单碱基量换所致.目前在我国其检出了15种以上的点突变6见表,这 些点突变在我国 ... 7. GT. L255V. 7. TC. R261Q. 7. GA. IVS7n+2. 7. GT. W326X. 10. GA. A345T. 10 ...
    www.bbioo.com/bio101/2005/5175.htm
  • pcr_奇虎问答搜索
    7TC R261Q 7GA IVS7n+2 7GT W326X 10GA A345T 10GA Y356X 11GA R413P 12GC T418P 12AC PAH基因点突变的PCR检测 (一)PCR-ASO斑点杂交 在我国人群中,目前所发现的PAH基因突变以点突变为主,因此可以...
    www.qihoo.com/wenda.php?kw=pcr&do=search&noq=q&page=8
  • Xavier Estivill - research profile on BiomedExperts
    Xavier Estivill - research profile on BiomedExperts:Molecular Sequence Data, Base Sequence, Mutation, Pedigree, Polymerase Chain Reaction, Cystic Fibrosis.
    www.biomedexperts.com/Profile.bme/376483/Xavier_Estivill
  • FINDbase
    PAH. Phenylketonuria. c.1066-11G>A, c.1155G>C, c.1169A>G, c.1222C>T, c.1238G>C, c.1315+1G>A, c.1316-35C>T, c. ... Gfs, p.W120X, p.W187X, p.W326X, p.Y154H, p.Y166X, p.Y198_E205, p. ...
    findbase.org/display-file.php?...&submenu=genes&consortium=
  • Genetica Medica
    SECCIÓN 9 GENÉTICA MÉDICA X. Estivill Pallejà, V. Volpini Bertrán, M. Milà Recasens, F. Real Arriba
    www.slideshare.net/acastillop/genetica-medica
  • Genoma Humano: Aproximaciones Bioinformáticas Genómicas y ...
    El primer borrador del Genoma Humano, que esta siendo completado en estos ... mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with ...
    www.pdg.cnb.uam.es/cursos/Escorial2000
  • PCR技术在苯酶同尿症诊断中的应用-试验方案
    PAH基因突变类型 PAH基因的突变常见的有两种类型即缺失和单碱基置换,在我国人群中,已检测的 PKU均因PAH基因的单碱基量换所致.目前 ... 2 7 GT W326X 10 GA A345T 10 GA Y356X 11 GA R413P 12 GC T418P 12 AC PAH基因点突变的PCR检测 ...
    www.51protocol.com/PCR/use/20061106/240.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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