PAH W326X - GET-Evidence

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

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(PAH Trp326Stop)

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 (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 ...
  • 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. ...
  • 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 ...
  • 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 ...
  • 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...
  • Xavier Estivill - research profile on BiomedExperts
    Xavier Estivill - research profile on BiomedExperts:Molecular Sequence Data, Base Sequence, Mutation, Pedigree, Polymerase Chain Reaction, Cystic Fibrosis.
  • 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. ...
  • Genetica Medica
    SECCIÓN 9 GENÉTICA MÉDICA X. Estivill Pallejà, V. Volpini Bertrán, M. Milà Recasens, F. Real Arriba
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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