Full data view for gene PAH

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

105 entries on 2 pages. Showing entries 1 - 100.
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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.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Unknown - - - - - DNA SEQ dried blood spot - PKU Pat46 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - F no Mexico Chihuahua - - - nutritional treatment 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Both (homozygous) - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat27 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Puebla - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Both (homozygous) - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat28 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Puebla - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Both (homozygous) - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat29 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Hidalgo - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Both (homozygous) - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat30 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Queretaro - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Both (homozygous) - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat31 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Queretaro - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat118 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Guerrero - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat119 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Michoacan - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat120 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Edo Mex - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat11 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Puebla - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat12 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat13 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Aguascalientes - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat14 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat36 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat37 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat38 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat39 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Puebla - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat68 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Hidalgo - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat89 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico San Luis Potosi - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat98 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Queretaro - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat109 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Chihuahua - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat112 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Hidalgo - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat124 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Queretaro - - - - 1 Liliana Fernández
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Liang 2014 - - Germline - 1/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Lee 2008 - - Germline - - - - - DNA SEQ - - PKU Pat29 PubMed: Lee 2008 - - - Korea - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Lee 2008 - - Germline - - - - - DNA SEQ - - PKU Pat31 PubMed: Lee 2008 - - - Korea - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Unknown - pathogenic g.103237461C>T g.102843683C>T - - PAH_000193 combination of alleles not reported PubMed: Yan 2019 - - Germline - 1/253 cases classic PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Unknown - pathogenic g.103237461C>T g.102843683C>T - - PAH_000193 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.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T - - - PAH_000193 - PubMed: Trujillano 2014 - rs62516101 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU G8 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T - - - PAH_000193 - PubMed: Trujillano 2014 - rs62516101 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU S9 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Both (homozygous) - pathogenic (recessive) g.103237461C>T - - - PAH_000193 - PubMed: Trujillano 2014 - rs62516101 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU S16 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T - - - PAH_000193 - PubMed: Trujillano 2014 - rs62516101 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU S21 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T - - - PAH_000193 - PubMed: Trujillano 2014 - rs62516101 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU C12 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T - - - PAH_000193 - PubMed: Trujillano 2014 - rs62516101 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU E10 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T - - - PAH_000193 - PubMed: Trujillano 2014 - rs62516101 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU F8 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Both (homozygous) - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Both (homozygous) - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Both (homozygous) - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Both (homozygous) - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Both (homozygous) - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Both (homozygous) - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T - - PAH_000193 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat223 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Both (homozygous) - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Bueno 2013 - - Germline - 22/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat20 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Bueno 2013 - - Germline - 22/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat26 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Unknown - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 22/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 8 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Bueno 2013 - - Germline - 22/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat12 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Bueno 2013 - - Germline - 22/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat18 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Bueno 2013 - - Germline - 22/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat27 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Bueno 2013 - - Germline - 22/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat28 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #2 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Bueno 2013 - - Germline - 22/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat52 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Bueno 2013 - - Germline - 22/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Bueno 2013 - - Germline - 22/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Bueno 2013 - - Germline - 22/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Bueno 2013 - - Germline - 22/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Bueno 2013 - - Germline - 22/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Bueno 2013 - - Germline - 22/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 family, 2 affected sibs - - Spain Andalusia - - - - 2 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Unknown - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Hennermann 2000 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Perez-Duenas 2004 - - Germline - 18/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Perez-Duenas 2004 - - Germline - 8/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Perez-Duenas 2004 - - Germline - 5/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 - PubMed: Perez-Duenas 2004 - - Germline - 4/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1162G>A r.(?) p.(Val388Met) Parent #1 - pathogenic (recessive) g.103237461C>T g.102843683C>T V388M - PAH_000193 no variant 2nd chromosome PubMed: Perez-Duenas 2004 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
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