Full data view for gene PAH

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

79 entries on 1 page. Showing entries 1 - 79.
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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.473G>A r.(?) p.(Arg158Gln) Unknown - pathogenic g.103260410C>T g.102866632C>T PAH(NM_000277.1):c.473G>A (p.R158Q), PAH(NM_000277.3):c.473G>A (p.(Arg158Gln), p.R158Q) - PAH_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.473G>A r.(?) p.(Arg158Gln) Unknown - pathogenic g.103260410C>T g.102866632C>T PAH(NM_000277.1):c.473G>A (p.R158Q), PAH(NM_000277.3):c.473G>A (p.(Arg158Gln), p.R158Q) - PAH_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.473G>A r.(?) p.(Arg158Gln) Unknown - pathogenic g.103260410C>T g.102866632C>T PAH(NM_000277.1):c.473G>A (p.R158Q), PAH(NM_000277.3):c.473G>A (p.(Arg158Gln), p.R158Q) - PAH_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat65 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.473G>A r.(?) p.(Arg158Gln) Unknown - pathogenic g.103260410C>T - PAH(NM_000277.1):c.473G>A (p.R158Q), PAH(NM_000277.3):c.473G>A (p.(Arg158Gln), p.R158Q) - PAH_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Unknown - pathogenic g.103260410C>T g.102866632C>T - - PAH_000115 combination of alleles not reported PubMed: Yan 2019 - - Germline - 4/253 cases classic PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 4 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 19/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 19/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 19/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 19/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 19/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 19/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 19/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 19/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Both (homozygous) - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 19/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Both (homozygous) - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 19/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 19/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 19/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 19/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 19/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 19/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 19/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 19/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T - - - PAH_000115 - PubMed: Trujillano 2014 - rs5030843 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU G5 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T - - - PAH_000115 - PubMed: Trujillano 2014 - rs5030843 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU C10 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T - - - PAH_000115 - PubMed: Trujillano 2014 - rs5030843 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU D1 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T - - - PAH_000115 - PubMed: Trujillano 2014 - rs5030843 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU D5 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Unknown - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 combination of variants not reported PubMed: Yu 2014 - - Germline - 2/122 cases PKU - - - DNA SSCA, SEQ - - PKU - PubMed: Yu 2014 - - - China - - - - - 2 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA MLPA, SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Both (homozygous) - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Both (homozygous) - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Ferreira 2021 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Both (homozygous) - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Ferreira 2021 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Both (homozygous) - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Ferreira 2021 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Both (homozygous) - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Ferreira 2021 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Both (homozygous) - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Ferreira 2021 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Both (homozygous) - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Ferreira 2021 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Groselj 2012 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Ferreira 2021 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Ferreira 2021 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Ferreira 2021 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Ferreira 2021 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Ferreira 2021 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Ferreira 2021 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Ferreira 2021 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Ferreira 2021 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Ferreira 2021 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Ferreira 2021 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 5 c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Ferreira 2021 - - Germline - 24/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat54 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Both (homozygous) - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat274 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat294 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat310 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Both (homozygous) - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat506 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat281 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat294 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat428 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat587 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Unknown - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 5/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 3 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 - PubMed: Bueno 2013 - - Germline - 5/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat17 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 - PubMed: Bueno 2013 - - Germline - 5/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat32 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Unknown - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 19/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Hennermann 2000 - - - Germany - - - - - 19 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #1 - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 - PubMed: Perez-Duenas 2004 - - Germline - 5/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 - PubMed: Perez-Duenas 2004 - - Germline - 5/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.473G>A r.(?) p.(Arg158Gln) Parent #2 - pathogenic (recessive) g.103260410C>T g.102866632C>T R158Q - PAH_000115 - PubMed: Perez-Duenas 2004 - - Germline - 221/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
?/. 5 c.473G>A r.(?) p.(Arg158Gln) Unknown - VUS g.103260410C>T g.102866632C>T - - PAH_000115 - PubMed: Hillert 2020, data copied from the BIOPKU database with 3D model - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.473G>A r.(?) p.(Arg158Gln) Unknown - pathogenic g.103260410C>T - PAH(NM_000277.1):c.473G>A (p.R158Q), PAH(NM_000277.3):c.473G>A (p.(Arg158Gln), p.R158Q) - PAH_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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