Full data view for gene PAH

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

110 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.1315+1G>A r.(=) p.(=) Unknown - VUS g.103234177C>T g.102840399C>T INTRON 12, IVS12+1G>A, CHR12:101758307G>A - PAH_000008 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1315+1G>A r.(=) p.(=) Unknown - VUS g.103234177C>T g.102840399C>T INTRON 12, IVS12+1G>A, CHR12:101758307G>A - PAH_000008 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1315+1G>A r.spl? p.? Unknown - pathogenic g.103234177C>T g.102840399C>T PAH(NM_000277.1):c.1315+1G>A, PAH(NM_000277.2):c.1315+1G>A, PAH(NM_000277.3):c.1315+1G>A - PAH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1315+1G>A r.spl? p.? Unknown - pathogenic g.103234177C>T g.102840399C>T PAH(NM_000277.1):c.1315+1G>A, PAH(NM_000277.2):c.1315+1G>A, PAH(NM_000277.3):c.1315+1G>A - PAH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1315+1G>A r.spl? p.? Unknown - pathogenic g.103234177C>T g.102840399C>T PAH(NM_000277.1):c.1315+1G>A, PAH(NM_000277.2):c.1315+1G>A, PAH(NM_000277.3):c.1315+1G>A - PAH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T - - - PAH_000008 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES PKU M002 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T - - - PAH_000008 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES PKU M004 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T - - - PAH_000008 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES PKU M007 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl? p.? Unknown - pathogenic g.103234177C>T - PAH(NM_000277.1):c.1315+1G>A, PAH(NM_000277.2):c.1315+1G>A, PAH(NM_000277.3):c.1315+1G>A - PAH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1315+1G>A r.spl? p.? Maternal (confirmed) - likely pathogenic (recessive) g.103234177C>T - - - PAH_000008 - - - - Germline - - - - - DNA SEQ-NG - WES PKU 038P - - M no Spain - - - - - 1 Alejandro Brea-Fernández
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat123 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Guanajuato - 0 - - 1 Liliana Fernández
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat18 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Guanajuato - 0 - - 1 Liliana Fernández
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat19 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Guanajuato - 0 - - 1 Liliana Fernández
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - 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 - 0 - - 1 Liliana Fernández
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - 0 - DNA SEQ - - PKU Pat122 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Tabasco - 0 - - 1 Liliana Fernández
+/. 12i c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12+1G>A - PAH_000008 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 7/214 case chromosomes - 0 - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - 0 - - 1 Johan den Dunnen
+/. 12i c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12+1G>A - PAH_000008 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 7/214 case chromosomes - 0 - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - 0 - - 1 Johan den Dunnen
+/. 12i c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12+1G>A - PAH_000008 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 7/214 case chromosomes - 0 - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - 0 - - 1 Johan den Dunnen
+/. 12i c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12+1G>A - PAH_000008 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 7/214 case chromosomes - 0 - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - 0 - - 1 Johan den Dunnen
+/. 12i c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12+1G>A - PAH_000008 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 7/214 case chromosomes - 0 - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - 0 - - 1 Johan den Dunnen
+/. 12i c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12+1G>A - PAH_000008 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 7/214 case chromosomes - 0 - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - 0 - - 1 Johan den Dunnen
+/. 12i c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12+1G>A - PAH_000008 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 7/214 case chromosomes - 0 - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T - - - PAH_000008 - PubMed: Trujillano 2014 - rs5030861 Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU S8 PubMed: Trujillano 2014 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA MLPA, SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - 0 - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - 0 - - 1 Johan den Dunnen
+/. 12i c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12+1G>A - PAH_000008 - PubMed: Ferreira 2021 - - Germline - 5/446 chromosomes PKU - 0 - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - 0 - - 1 Johan den Dunnen
+/. 12i c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12+1G>A - PAH_000008 - PubMed: Ferreira 2021 - - Germline - 5/446 chromosomes PKU - 0 - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - 0 - - 1 Johan den Dunnen
+/. 12i c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12+1G>A - PAH_000008 - PubMed: Ferreira 2021 - - Germline - 5/446 chromosomes PKU - 0 - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - 0 - - 1 Johan den Dunnen
+/. 12i c.1315+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12+1G>A - PAH_000008 - PubMed: Ferreira 2021 - - Germline - 5/446 chromosomes PKU - 0 - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Shirzadeh 2018 - - Germline - - - 0 - DNA ARMS, SEQ - - PKU Pat3 PubMed: Shirzadeh 2018 - - - Iran - - 0 - - 1 Johan den Dunnen
+/. 12i c.1315+1G>A r.[1200_1315del,1066_1315del] p.[Asn401Ter,Tyr356ValfsTer13] Parent #1 - pathogenic (recessive) g.103234177C>T - IVS12nt1g>a - PAH_000008 - PubMed: Ellingsen 1997 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SSCAf - - PKU patient PubMed: Ellingsen 1997 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12ntl - PAH_000008 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.103234177C>T g.102840399C>T IVS12nt1 - PAH_000008 - PubMed: Eiken 1996 - - Germline - - - 0 - DNA DGGE, SEQ - - PKU - PubMed: Eiken 1996 - - - Norway - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 no variant 2nd chromosome PubMed: Dobrowolski 2009 - - Germline - - - 0 - DNA MCA, SEQ - - PKU Pat52 PubMed: Dobrowolski 2009 - - - Poland - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 no variant 2nd chromosome PubMed: Dobrowolski 2009 - - Germline - - - 0 - DNA MCA, SEQ - - PKU Pat62 PubMed: Dobrowolski 2009 - - - Poland - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Dobrowolski 2009 - - Germline - - - 0 - DNA MCA, SEQ - - PKU Pat23 PubMed: Dobrowolski 2009 - - - Poland - - 0 - - 1 Johan den Dunnen
+/. - c.1315+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103234177C>T g.102840399C>T - - PAH_000008 - PubMed: Dobrowolski 2009 - - Germline - - - 0 - DNA MCA, SEQ - - PKU Pat49 PubMed: Dobrowolski 2009 - - - Poland - - 0 - - 1 Johan den Dunnen
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