Full data view for gene PAH

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

78 entries on 1 page. Showing entries 1 - 78.
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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.1241A>G r.(?) p.(Tyr414Cys) Unknown - VUS g.103234252T>C g.102840474T>C - - PAH_000004 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Unknown - pathogenic g.103234252T>C g.102840474T>C PAH(NM_000277.3):c.1241A>G (p.Y414C), PAH(NM_001354304.1):c.1241A>G (p.Y414C) - PAH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Unknown - pathogenic g.103234252T>C g.102840474T>C PAH(NM_000277.3):c.1241A>G (p.Y414C), PAH(NM_001354304.1):c.1241A>G (p.Y414C) - PAH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Unknown - pathogenic g.103234252T>C g.102840474T>C PAH(NM_000277.3):c.1241A>G (p.Y414C), PAH(NM_001354304.1):c.1241A>G (p.Y414C) - PAH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Unknown - pathogenic g.103234252T>C g.102840474T>C PAH(NM_000277.3):c.1241A>G (p.Y414C), PAH(NM_001354304.1):c.1241A>G (p.Y414C) - PAH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat32 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Zacatecas - - - - 1 Liliana Fernández
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat33 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Queretaro - - - - 1 Liliana Fernández
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F57C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. 12 c.1241A>G r.(?) p.(Tyr414Cys) Unknown - pathogenic g.103234252T>C g.102840474T>C - - PAH_000004 combination of alleles not reported PubMed: Yan 2019 - - Germline - 1/150 cases moderate PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C - - - PAH_000004 - PubMed: Trujillano 2014 - rs5030860 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU D7 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C - - - PAH_000004 - PubMed: Trujillano 2014 - rs5030860 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU E7 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Both (homozygous) - pathogenic (recessive) g.103234252T>C - - - PAH_000004 - PubMed: Trujillano 2014 - rs5030860 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU G7 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Groselj 2012 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA MLPA, SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 12 c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Ferreira 2021 - - Germline - 4/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 12 c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Ferreira 2021 - - Germline - 4/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 12 c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Ferreira 2021 - - Germline - 4/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 12 c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Ferreira 2021 - - Germline - 4/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 12 c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Ferreira 2021 - - Germline - 4/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Both (homozygous) - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Maternal (confirmed) - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ - - PKU - PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Paternal (confirmed) - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ - - PKU - PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Dobrowolski 2009 - - Germline - - - - - DNA MCA, SEQ - - PKU Pat51 PubMed: Dobrowolski 2009 - - - Poland - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Bueno 2013 - - Germline - 8/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat29 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Bueno 2013 - - Germline - 8/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat33 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Bueno 2013 - - Germline - 8/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat34 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Bueno 2013 - - Germline - 8/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat45 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Unknown - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 8/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 3 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Bueno 2013 - - Germline - 8/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat42 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Unknown - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 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.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 no variant 2nd chromosome PubMed: Perez-Duenas 2004 - - Germline - 23/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - pathogenic (recessive) g.103234252T>C g.102840474T>C Y414C - PAH_000004 - PubMed: Perez-Duenas 2004 - - Germline - 2/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. 12 c.1241A>G r.(?) p.(Tyr414Cys) Unknown - pathogenic (recessive) g.103234252T>C g.102840474T>C - - PAH_000004 allelic phenotype value 5.1, variant associated with mild PKU PubMed: Hillert 2020, data copied from the BIOPKU database with 3D model - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #1 - likely pathogenic g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat73 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.1241A>G r.(?) p.(Tyr414Cys) Parent #2 - likely pathogenic g.103234252T>C g.102840474T>C - - PAH_000004 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat60 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
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