Full data view for gene PAH

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

83 entries on 1 page. Showing entries 1 - 83.
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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.1208C>T r.(?) p.(Ala403Val) Unknown - pathogenic g.103234285G>A g.102840507G>A PAH(NM_000277.1):c.1208C>T (p.A403V), PAH(NM_000277.3):c.1208C>T (p.(Ala403Val), p.A403V) - PAH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1208C>T r.(?) p.(Ala403Val) Unknown - pathogenic g.103234285G>A g.102840507G>A PAH(NM_000277.1):c.1208C>T (p.A403V), PAH(NM_000277.3):c.1208C>T (p.(Ala403Val), p.A403V) - PAH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1208C>T r.(?) p.(Ala403Val) Unknown - pathogenic g.103234285G>A g.102840507G>A PAH(NM_000277.1):c.1208C>T (p.A403V), PAH(NM_000277.3):c.1208C>T (p.(Ala403Val), p.A403V) - PAH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1208C>T r.(?) p.(Ala403Val) Unknown - pathogenic g.103234285G>A g.102840507G>A PAH(NM_000277.1):c.1208C>T (p.A403V), PAH(NM_000277.3):c.1208C>T (p.(Ala403Val), p.A403V) - PAH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1208C>T r.(?) p.(Ala403Val) Both (homozygous) - VUS g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Beck 2014 - rs5030857 Germline - - - - - DNA SEQ-NG - WES retinal disease family PubMed: Beck 2014 2-generation family, 5 affected (2F, 3M) F;M yes Iraq - - - - - 5 Johan den Dunnen
?/. - c.1208C>T r.(?) p.(Ala403Val) Unknown - VUS g.103234285G>A - - - PAH_000027 - PubMed: Razaq 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES BMD/DMD, WEST patient PubMed: Razaq 2021 - M no United States Middle East;Hispanic - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Both (homozygous) - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat40 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Queretaro - - - - 1 Liliana Fernández
+/. - c.1208C>T r.(?) p.(Ala403Val) Both (homozygous) - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat41 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat107 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Guerrero - - - - 1 Liliana Fernández
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F5C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F2C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Unknown - pathogenic g.103234285G>A g.102840507G>A - - PAH_000027 combination of alleles not reported PubMed: Yan 2019 - - Germline - 1/72 cases mild hyperphenylalaninemia - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 15/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 15/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 15/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 15/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 15/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 15/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 15/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 15/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 15/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 15/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 15/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 15/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 15/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 15/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 15/214 case chromosomes - - - DNA DHPLC, MLPA, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A - - - PAH_000027 - PubMed: Trujillano 2014 - rs5030857 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU B3 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A - - - PAH_000027 - PubMed: Trujillano 2014 - rs5030857 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU B9 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A - - - PAH_000027 - PubMed: Trujillano 2014 - rs5030857 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU C7 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A - - - PAH_000027 - PubMed: Trujillano 2014 - rs5030857 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU E9 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Both (homozygous) - pathogenic (recessive) g.103234285G>A - - - PAH_000027 - PubMed: Trujillano 2014 - rs5030857 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU F11 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A - - - PAH_000027 - PubMed: Trujillano 2014 - rs5030857 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU S36 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A - - - PAH_000027 - PubMed: Groselj 2012 - rs5030857 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU A5 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A - - - PAH_000027 - PubMed: Trujillano 2014 - rs5030857 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU G9 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A - - - PAH_000027 - PubMed: Trujillano 2014 - rs5030857 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU H2 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Both (homozygous) - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat273 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat297 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat368 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat432 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat479 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #1 - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat611 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat256 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat308 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat595 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat620 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat631 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 - PubMed: Bueno 2013 - - Germline - 10/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 - PubMed: Bueno 2013 - - Germline - 10/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Both (homozygous) - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 - PubMed: Bueno 2013 - - Germline - 10/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 family, 2 affected sibs - - Spain Andalusia - - - - 2 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Unknown - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 10/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 5 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 - PubMed: Bueno 2013 - - Germline - 10/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat46 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 - PubMed: Hennermann 2000 - - Germline - 2/580 chromosomes PKU - - - DNA SEQ - - PKU PatTD PubMed: Hennermann 2000 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - pathogenic (recessive) g.103234285G>A g.102840507G>A A403V - PAH_000027 - PubMed: Hennermann 2000 - - Germline - 2/580 chromosomes PKU - - - DNA SEQ - - PKU PatFD PubMed: Hennermann 2000 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Both (homozygous) - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Reiner 2022 - - Germline - 1/73,755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States Middle East - - - - 1 Johan den Dunnen
+/. 12 c.1208C>T r.(?) p.(Ala403Val) Unknown - pathogenic (recessive) g.103234285G>A g.102840507G>A - - PAH_000027 allelic phenotype value 9.3, variant associated with mild HPA PubMed: Hillert 2020, data copied from the BIOPKU database with 3D model - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - likely pathogenic g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat65 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.1208C>T r.(?) p.(Ala403Val) Parent #2 - likely pathogenic g.103234285G>A g.102840507G>A - - PAH_000027 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat66 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1208C>T r.(?) p.(Ala403Val) Unknown - pathogenic g.103234285G>A - PAH(NM_000277.1):c.1208C>T (p.A403V), PAH(NM_000277.3):c.1208C>T (p.(Ala403Val), p.A403V) - PAH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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