Full data view for gene PAH

Information The variants shown are described using the NM_000277.1 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.204A>T r.(?) p.(Arg68Ser) Unknown - pathogenic g.103288661T>A g.102894883T>A PAH(NM_000277.3):c.204A>T (p.R68S) - PAH_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat54 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat55 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Queretaro - - - - 1 Liliana Fernández
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat56 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Veracruz - - - - 1 Liliana Fernández
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Both (homozygous) - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A [526C>T][204A>T][707-7A>T] - PAH_000128 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #2 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 3 c.204A>T r.(?) p.(Arg68Ser) Both (homozygous) - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Ferreira 2021 - - Germline - 7/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Ferreira 2021 - - Germline - 7/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Ferreira 2021 - - Germline - 7/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Ferreira 2021 - - Germline - 7/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Ferreira 2021 - - Germline - 7/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 - PubMed: Groselj 2012 - - Germline - 7/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A R68S - PAH_000128 - PubMed: Bueno 2013 - - Germline - 9/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat24 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A R68S - PAH_000128 - PubMed: Bueno 2013 - - Germline - 9/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat49 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Unknown - pathogenic (recessive) g.103288661T>A g.102894883T>A R68S - PAH_000128 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 9/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 3 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #2 - pathogenic (recessive) g.103288661T>A g.102894883T>A R68S - PAH_000128 - PubMed: Bueno 2013 - - Germline - 9/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat16 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #2 - pathogenic (recessive) g.103288661T>A g.102894883T>A R68S - PAH_000128 - PubMed: Bueno 2013 - - Germline - 9/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat22 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A R68S - PAH_000128 - PubMed: Bueno 2013 - - Germline - 9/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.204A>T r.(?) p.(Arg68Ser) Parent #1 - pathogenic (recessive) g.103288661T>A g.102894883T>A R68S - PAH_000128 - PubMed: Bueno 2013 - - Germline - 9/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 family, 2 affected sibs - - Spain Andalusia - - - - 2 Johan den Dunnen
+/. 3 c.204A>T r.(?) p.(Arg68Ser) Unknown - pathogenic (recessive) g.103288661T>A g.102894883T>A - - PAH_000128 allelic phenotype value 5.4, variant associated with mild PKU PubMed: Hillert 2020, data copied from the BIOPKU database - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
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